ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.639C>T (p.Ser213=)

gnomAD frequency: 0.00009  dbSNP: rs375180398
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526070 SCV000637587 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-09-17 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001188959 SCV001356150 likely benign Cardiomyopathy 2019-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367836 SCV002661161 likely benign Cardiovascular phenotype 2020-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330765 SCV004038021 likely benign not specified 2023-08-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003925637 SCV004744017 likely benign RYR2-related condition 2019-09-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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