ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3946-45C>G

gnomAD frequency: 0.00003  dbSNP: rs201551454
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000170805 SCV000223360 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000170805 SCV000925038 uncertain significance not provided 2016-04-01 no assertion criteria provided provider interpretation
Clinical Genetics, Academic Medical Center RCV001699215 SCV001926207 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000170805 SCV001952785 likely benign not provided no assertion criteria provided clinical testing

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