ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)

dbSNP: rs1695413897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001176745 SCV001340788 likely benign Cardiomyopathy 2020-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559702 SCV002345740 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379681 SCV002691350 likely benign Cardiovascular phenotype 2019-11-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV004006323 SCV004818850 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-06 criteria provided, single submitter clinical testing

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