ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) (rs200330469)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250456 SCV000320376 likely benign Cardiovascular phenotype 2015-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics RCV000719050 SCV000849914 likely benign History of neurodevelopmental disorder 2015-11-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723668 SCV000111147 uncertain significance not provided 2013-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000079277 SCV000515665 benign not specified 2015-04-13 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.
Invitae RCV000227355 SCV000285585 benign Long QT syndrome 2017-12-21 criteria provided, single submitter clinical testing

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