ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.12240C>T (p.Tyr4080=)

dbSNP: rs1335612184
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003025472 SCV002419033 likely benign Catecholaminergic polymorphic ventricular tachycardia 1 2023-04-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003491043 SCV004241053 likely benign not specified 2023-12-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005407 SCV004826268 likely benign Catecholaminergic polymorphic ventricular tachycardia 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004982910 SCV005497036 likely benign Cardiovascular phenotype 2024-10-19 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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