ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8775C>T (p.Phe2925=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003297624 SCV004009349 likely benign Cardiovascular phenotype 2023-05-11 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.
CeGaT Center for Human Genetics Tuebingen RCV003334087 SCV004042472 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing RYR2: PM2:Supporting, BP4, BP7
Labcorp Genetics (formerly Invitae), Labcorp RCV003638934 SCV004513945 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2024-02-09 criteria provided, single submitter clinical testing

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