ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.426C>T (p.Phe142=)

gnomAD frequency: 0.00002  dbSNP: rs564275776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864579 SCV001005399 benign Brugada syndrome 4 2023-10-25 criteria provided, single submitter clinical testing
GeneDx RCV001612947 SCV001837390 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450849 SCV002739814 likely benign Cardiovascular phenotype 2020-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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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