ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.594-4C>T

dbSNP: rs931745771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001406389 SCV001608341 likely benign Brugada syndrome 4 2023-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895764 SCV004708375 likely benign CACNB2-related disorder 2021-01-28 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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