ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) (rs141633456)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621900 SCV000737406 likely benign Cardiovascular phenotype 2016-12-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079281 SCV000111151 uncertain significance not provided 2012-09-26 criteria provided, single submitter clinical testing
Invitae RCV000205932 SCV000259926 likely benign Long QT syndrome 2017-12-21 criteria provided, single submitter clinical testing

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