ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3507C>T (p.Asn1169=)

gnomAD frequency: 0.00006  dbSNP: rs746106606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191844 SCV001359759 likely benign Cardiomyopathy 2018-11-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002560990 SCV001724291 benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-11-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004010544 SCV004816954 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004671240 SCV005158787 likely benign Cardiovascular phenotype 2024-05-12 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.

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