ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4624-9C>T (rs377568567)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124086 SCV000335173 benign not specified 2015-10-06 criteria provided, single submitter clinical testing
GeneDx RCV000124086 SCV000167495 benign not specified 2013-11-25 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 RCV000373881 SCV000377866 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279304 SCV000377867 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471587 SCV000562884 benign Long QT syndrome 2017-12-28 criteria provided, single submitter clinical testing

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