ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2886A>G (p.Lys962=)

dbSNP: rs2147940587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001524507 SCV001734381 likely benign Cardiomyopathy 2020-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002439213 SCV002750500 likely benign Cardiovascular phenotype 2022-08-16 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 RCV003638790 SCV004424480 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-04-04 criteria provided, single submitter clinical testing

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