ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
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)
Invitae RCV000474191 SCV000562919 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718831 SCV000849695 likely benign History of neurodevelopmental disorder 2016-12-21 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000124072 SCV001159445 benign not specified 2019-03-13 criteria provided, single submitter clinical testing

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