ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.1489-8G>A

gnomAD frequency: 0.00010  dbSNP: rs557859826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434634 SCV000533539 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001426927 SCV001629591 likely benign Brugada syndrome 4 2023-12-22 criteria provided, single submitter clinical testing

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