ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1488+9A>G

gnomAD frequency: 0.00026  dbSNP: rs368473992
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000869912 SCV001011374 benign Brugada syndrome 4 2023-09-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965737 SCV004782513 likely benign CACNB2-related disorder 2019-08-28 criteria provided, single submitter 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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