Gene
RYR3
RYR3 is a gene biomarker in the evidence tier "FDA companion diagnostic". This page lists evidence by type: FDA companion diagnostic assertions (1), Assay-provider ledger (5), Target-disease associations (133), and 4 more evidence types, each linked to its source.
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Rows recorded per section (log scale)
5 sections measured, none recorded
FDA companion diagnostic
Evidence over time
Share of that year: what fraction of the papers our biomarker dictionary matched in a year mention RYR3. The denominator is documents that mention any gene, not every registered document, so improving the matcher moves both halves and never rewrites history. Actionable-biomarker and target-disease-association evidence carries no date in our sources, so it is not on this chart. Publication mentions cover only papers cited by a registered clinical trial, not all of PubMed.
Publication mentions: plotted from 1990 to 2023, the years our matched corpus covers.
The yearly numbers
| Year | Publication mentions | Share of that year |
|---|---|---|
| 2023 | 1 of 11,460 | 0.01% |
| 2022 | 1 of 13,598 | 0.01% |
| 2021 | 1 of 15,045 | 0.01% |
| 2020 | 3 of 14,459 | 0.02% |
| 2019 | 0 of 12,159 | 0.00% |
| 2018 | 2 of 11,854 | 0.02% |
| 2017 | 2 of 11,595 | 0.02% |
| 2016 | 2 of 10,983 | 0.02% |
| 2015 | 3 of 11,395 | 0.03% |
| 2014 | 1 of 10,367 | 0.01% |
Showing 10 of 34 years.
FDA companion diagnostic assertions (1)
Shown in this order: most recent decision first.
| Diagnostic | Source biomarker wording | Manufacturer | Indication | Decision date |
|---|---|---|---|---|
| Idylla CDx MSI Test | RYR3 | Biocartis US, Inc. | Colorectal Cancer (CRC) | 2025-08-15 |
Assay-provider ledger (5)
Shown in this order: most recent publication first.
| Company | Provider class | Validation | Papers | Most recent publication |
|---|---|---|---|---|
| Biocartis | Diagnostic provider | Clinical validation | 3 | September 01, 2025 |
| Agilent Technologies | Reagent supplier | Clinical validation | 1 | July 24, 2021 |
| DAKO (Carpinteria, CA, USA) - IHC antibodies and Autostainer Link 48 platform | Context dependent | Clinical validation | 1 | July 24, 2021 |
| Diatech Pharmacogenetics | Diagnostic provider | Clinical validation | 1 | July 24, 2021 |
| Qiagen (Hilden, Germany) - Mini Amp DNA extraction kit | Reagent supplier | Clinical validation | 1 | July 24, 2021 |
Target-disease associations (133)
Shown in this order: fixed catalogue order, not ranked.
| Disease | Therapeutic area | Source |
|---|---|---|
| 7q11.23 microduplication syndrome | genetic, familial or congenital disease | Mouse knockout (IMPC) |
| Abnormal male internal genitalia morphology | phenotype | GWAS credible sets |
| Abnormality of the immune system | phenotype | GWAS credible sets |
| Abruptio Placentae | pregnancy or perinatal disease | GWAS credible sets |
| Alzheimer disease | nervous system disease | Literature (Europe PMC) |
Showing 5 of 133 associations.
Vendor sourcing (9)
Shown in this order: alphabetical by organization.
| Organization | Role | Tier | Evidence | Citation |
|---|---|---|---|---|
| 3billion, Inc. (South Korea) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The variant is observed at an extremely low frequency in the gnomAD v4.1.0 dataset (total allele frequency: <0.001%). Predicted Consequence/Location: Intron ... | View ClinVar record SCV006583257.1 |
| ARUP Laboratories (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | No supporting text recorded; see the citation. | View ClinVar record SCV004563732.1 |
| Ambry Genetics (United States) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | The c.4991G>C (p.G1664A) alteration is located in exon 35 (coding exon 35) of the RYR3 gene. This alteration results from a G to C substitution at nucleotide... | View ClinVar record SCV000262827.6 |
| DASA (Brazil) | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | NM_001036.6(RYR3):c.14099A>G (p.Glu4700Gly) is a missense variant that results in the substitution of glutamic acid with glycine. Multiple computational pred... | View ClinVar record SCV007597501.1 |
| GeneDx Holdings Corp. | Testing lab / CRO (runs the assay) | Clinical-testing interpretation submitted (ClinVar)ClinVar clinical-testing submission | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserv... | View ClinVar record SCV000520001.4 |
Showing 5 of 9 sourcing records.
Trial-cited literature (23)
Shown in this order: newest first, then most cited.
| Publication | Journal | Year | Citations |
|---|---|---|---|
| A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk. | Cancer research | 2023 | 15 |
| Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures. | Pediatric research | 2022 | 18 |
| Acute RyR1 Ca<sup>2+</sup> leak enhances NADH-linked mitochondrial respiratory capacity. | Nature communications | 2021 | 38 |
| Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity. | Nature communications | 2020 | 148 |
| Disturbances in Calcium Homeostasis Promotes Skeletal Muscle Atrophy: Lessons From Ventilator-Induced Diaphragm Wasting. | Frontiers in physiology | 2020 | 25 |
Showing 5 of 23 papers.
Protein variant mentions (17)
Shown in this order: alphabetical by variant.
| Variant | Distinct papers | Year range | Sample papers |
|---|---|---|---|
| p.A2202T | 1 | 2015 | PMID 25741868 |
| p.A2284T | 1 | 2015 | PMID 25741868 |
| p.A3807E | 1 | 2015 | PMID 25741868 |
| p.A3947T | 1 | 2015 | PMID 25741868 |
| p.D10E | 1 | 2015 | PMID 25741868 |
Showing 5 of 17 variants.
Organizations publishing (72)
Shown in this order: most papers first.
| Organization | Type | Papers | Years |
|---|---|---|---|
| Duke University Health System | Academic | 2 | 2016 to 2017 |
| Georgetown University | Academic | 2 | 2018 |
| Government of the United States of America | Government | 2 | 2013 to 2018 |
| Harvard Medical School | Academic | 2 | 2011 to 2016 |
| Memorial Sloan Kettering Cancer Center | Hospital | 2 | 2013 to 2018 |
Showing 5 of 72 organizations.
Where RYR3 appears
- biological_process
- cancer or benign tumor
- cardiovascular disease
- endocrine system disease
- genetic, familial or congenital disease
- hematologic disease
- immune system disease
- injury, poisoning or other complication
- integumentary system disease
- measurement
- musculoskeletal or connective tissue disease
- nervous system disease
- phenotype
- pregnancy or perinatal disease
- respiratory or thoracic disease
128 diseases touched.
Not on this page
Checked, with nothing recorded for this biomarker: fda biomarker qualification projects, actionable biomarkers, trial mentions, human sample screening reference, and literature-extracted relations.