ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.670+9G>A

gnomAD frequency: 0.00001  dbSNP: rs767064261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441932 SCV000528631 likely benign not specified 2016-06-13 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 RCV001443039 SCV001645999 likely benign Brugada syndrome 4 2022-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707251 SCV005227038 likely benign not provided criteria provided, single submitter not provided

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