ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) (rs116491041)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254163 SCV000318436 likely benign Cardiovascular phenotype 2016-12-21 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,In silico models in agreement (benign)
Ambry Genetics RCV000718831 SCV000849695 likely benign History of neurodevelopmental disorder 2016-12-21 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,In silico models in agreement (benign)
GeneDx RCV000124072 SCV000167481 benign not specified 2012-04-17 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 RCV000356765 SCV000377794 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273488 SCV000377795 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000474191 SCV000562919 benign Long QT syndrome 2017-12-28 criteria provided, single submitter clinical testing

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