ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)

gnomAD frequency: 0.00709  dbSNP: rs113595214
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079294 SCV000111164 benign not specified 2012-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000079294 SCV000167500 benign not specified 2011-07-10 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.
Invitae RCV000203987 SCV000262442 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244441 SCV000317953 benign Cardiovascular phenotype 2016-05-18 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000717070 SCV000847916 benign History of neurodevelopmental disorder 2016-05-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001811361 SCV001471063 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001811361 SCV002544992 benign not provided 2023-11-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002498394 SCV002813795 benign Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-07-26 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079294 SCV001954860 benign not specified no assertion criteria provided clinical testing

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