ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7314C>T (p.Ile2438=)

dbSNP: rs374418643
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250563 SCV000318862 likely benign Cardiovascular phenotype 2016-03-22 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 RCV002518995 SCV001009619 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001184010 SCV001349878 likely benign Cardiomyopathy 2019-06-22 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999030 SCV004822046 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-01 criteria provided, single submitter clinical testing

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