ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)

gnomAD frequency: 0.00008  dbSNP: rs376792533
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002536790 SCV001021092 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2025-01-02 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171194 SCV001333889 benign Cardiomyopathy 2018-03-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001171194 SCV001344471 likely benign Cardiomyopathy 2020-03-03 criteria provided, single submitter clinical testing
GeneDx RCV001561061 SCV001783588 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320058 SCV002630614 likely benign Cardiovascular phenotype 2022-08-27 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 RCV004003129 SCV004817683 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-30 criteria provided, single submitter clinical testing

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