ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.1395C>G (p.Pro465=)

dbSNP: rs111990043
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001188126 SCV001355100 likely benign Cardiomyopathy 2019-02-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560008 SCV001625360 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-04-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001532583 SCV001748205 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293960 SCV003997073 likely benign Cardiovascular phenotype 2023-05-06 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 RCV004010260 SCV004845624 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing

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