ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5268C>G (p.Ser1756=)

gnomAD frequency: 0.00001  dbSNP: rs768147036
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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 RCV001175918 SCV001339729 likely benign Cardiomyopathy 2018-10-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002558795 SCV002410012 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-09-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339435 SCV002643866 likely benign Cardiovascular phenotype 2020-06-25 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 RCV004000302 SCV004819495 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-18 criteria provided, single submitter clinical testing

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