ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1047A>G (p.Ser349=)

gnomAD frequency: 0.00001  dbSNP: rs1287275969
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002166111 SCV002426876 likely benign Brugada syndrome 4 2020-11-29 criteria provided, single submitter clinical testing

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