ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.601T>C (p.Leu201=)

gnomAD frequency: 0.00004  dbSNP: rs752523583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586173 SCV000697624 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530915 SCV001646434 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358647 SCV002655165 likely benign Cardiovascular phenotype 2022-08-03 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 RCV004802283 SCV005426581 likely benign Catecholaminergic polymorphic ventricular tachycardia 2024-09-16 criteria provided, single submitter clinical testing

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