ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=)

gnomAD frequency: 0.00585  dbSNP: rs114139824
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203826 SCV000260828 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252905 SCV000319114 benign Cardiovascular phenotype 2016-02-02 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 RCV000715597 SCV000846426 benign History of neurodevelopmental disorder 2016-02-02 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193294 SCV001362031 benign not specified 2019-07-04 criteria provided, single submitter clinical testing
GeneDx RCV001689734 SCV001915513 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001689734 SCV004563002 benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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