ClinVar Miner

Submissions for variant NM_201596.3(CACNB2):c.334-8C>T

gnomAD frequency: 0.00006  dbSNP: rs374465425
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208153 SCV000263803 uncertain significance Ventricular fibrillation 2015-05-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625136 SCV000743841 likely benign Brugada syndrome 4 2017-07-28 criteria provided, single submitter clinical testing
Invitae RCV000625136 SCV001658298 likely benign Brugada syndrome 4 2022-02-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699238 SCV001918387 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723782 SCV001958663 likely benign not provided no assertion criteria provided clinical testing

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