ClinVar Miner

Submissions for variant NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) (rs199538058)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249460 SCV000318392 likely benign Cardiovascular phenotype 2015-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
Ambry Genetics RCV000716788 SCV000847631 likely benign History of neurodevelopmental disorder 2015-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,Subpopulation frequency in support of benign classification
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724269 SCV000230571 uncertain significance not provided 2015-05-15 criteria provided, single submitter clinical testing
GeneDx RCV000225692 SCV000167501 benign not specified 2014-12-23 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 RCV000393324 SCV000377892 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313373 SCV000377893 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233802 SCV000285593 benign Long QT syndrome 2017-12-21 criteria provided, single submitter clinical testing

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