ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8103T>C (p.Phe2701=)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002419499 SCV002679024 likely benign Cardiovascular phenotype 2018-09-14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003099840 SCV003475217 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-01-16 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003533200 SCV004360680 likely benign Cardiomyopathy 2022-05-06 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005766 SCV004815009 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-02-05 criteria provided, single submitter clinical testing

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