ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12397C>T (p.Leu4133=)

gnomAD frequency: 0.00001  dbSNP: rs1553322794
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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 RCV002529944 SCV000760703 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-08-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184531 SCV001350525 likely benign Cardiomyopathy 2019-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369664 SCV002667006 likely benign Cardiovascular phenotype 2022-01-25 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 RCV004003880 SCV004818073 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-10-30 criteria provided, single submitter clinical testing

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