ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1749C>G (p.Ala583=)

gnomAD frequency: 0.00002  dbSNP: rs755387775
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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 RCV001424210 SCV001626803 likely benign Brugada syndrome 4 2023-05-22 criteria provided, single submitter clinical testing
GeneDx RCV000874118 SCV001883074 benign not provided 2015-04-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001424210 SCV002798456 likely benign Brugada syndrome 4 2021-08-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169188 SCV003854514 likely benign Cardiovascular phenotype 2022-12-11 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.

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