ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.750A>G (p.Gly250=)

dbSNP: rs1572095976
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002545954 SCV001088807 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2022-06-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002390989 SCV002671818 likely benign Cardiovascular phenotype 2019-05-26 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 RCV003532332 SCV004358260 likely benign Cardiomyopathy 2022-08-08 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004323 SCV004845171 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-03-23 criteria provided, single submitter clinical testing

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