ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5451C>T (p.His1817=) (rs113239186)

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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 RCV000079299 SCV000111169 likely benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321903 SCV000377902 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384789 SCV000377903 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001082912 SCV000562878 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622114 SCV000735568 likely benign Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000717889 SCV000848749 likely benign History of neurodevelopmental disorder 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079299 SCV000883532 likely benign not specified 2019-04-12 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000755886 SCV001148535 likely benign not provided 2017-05-01 criteria provided, single submitter clinical testing

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