ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) (rs56270948)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079301 SCV000111171 benign not specified 2014-03-13 criteria provided, single submitter clinical testing
Invitae RCV000200821 SCV000252725 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251201 SCV000317405 benign Cardiovascular phenotype 2015-06-26 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
Illumina Clinical Services Laboratory,Illumina RCV000397494 SCV000377915 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303927 SCV000377916 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000079301 SCV000740554 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715734 SCV000846565 benign History of neurodevelopmental disorder 2015-06-26 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079301 SCV001156904 benign not specified 2019-01-11 criteria provided, single submitter clinical testing

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