ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11208G>C (p.Ala3736=)

gnomAD frequency: 0.00003  dbSNP: rs750384592
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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 RCV000617456 SCV000738053 likely benign Cardiovascular phenotype 2017-06-05 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.
Color Diagnostics, LLC DBA Color Health RCV001189156 SCV001356385 likely benign Cardiomyopathy 2019-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002531792 SCV001609318 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-02-19 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002697 SCV004823941 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-01-03 criteria provided, single submitter clinical testing

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