ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) (rs182208896)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417375 SCV000223314 likely benign not specified 2018-01-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000397509 SCV000377912 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000417375 SCV000602907 likely benign not specified 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV001084766 SCV000627570 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716979 SCV000847824 likely benign History of neurodevelopmental disorder 2018-04-09 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058288 SCV000089808 not provided not provided no assertion provided literature only This variant has been reported in the following publications (PMID:20817017).
CSER _CC_NCGL, University of Washington RCV000148442 SCV000190141 likely benign Brugada syndrome (shorter-than-normal QT interval) 2014-06-01 no assertion criteria provided research

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