ClinVar Miner

Submissions for variant NM_000722.4(CACNA2D1):c.397-6A>G

gnomAD frequency: 0.00023  dbSNP: rs200817801
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537528 SCV000636989 likely benign Brugada syndrome 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001724042 SCV002006837 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701033 SCV001919320 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001724042 SCV001959101 likely benign not provided no assertion criteria provided clinical testing

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