ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1975C>T (p.Arg659Cys)

gnomAD frequency: 0.00115  dbSNP: rs77141223
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721098 SCV000223414 likely benign not provided 2019-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000461914 SCV000562840 likely benign Brugada syndrome 4 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620280 SCV000737522 likely benign Cardiovascular phenotype 2018-04-17 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002307429 SCV002600436 likely benign not specified 2022-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907536 SCV004724135 likely benign CACNB2-related disorder 2022-08-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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