ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7222-4A>G

dbSNP: rs564974610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001175911 SCV001339722 likely benign Cardiomyopathy 2018-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002559686 SCV002386664 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2021-09-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003363137 SCV004054083 likely benign Cardiovascular phenotype 2023-07-27 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.

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