ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)

gnomAD frequency: 0.00131  dbSNP: rs201258230
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723666 SCV000111158 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Invitae RCV001086024 SCV000285592 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000250233 SCV000305449 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000617472 SCV000735225 likely benign Cardiovascular phenotype 2015-11-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000716637 SCV000847479 likely benign History of neurodevelopmental disorder 2015-11-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000723666 SCV001159757 benign not provided 2022-10-21 criteria provided, single submitter clinical testing
GeneDx RCV000723666 SCV001939305 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723666 SCV002544991 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing CACNA1C: BP4, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250233 SCV003929073 benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000723666 SCV001740612 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250233 SCV001919350 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250233 SCV001955143 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723666 SCV001971913 likely benign not provided no assertion criteria provided clinical testing

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