ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.537C>T (p.Ile179=) (rs369673473)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622005 SCV000737400 likely benign Cardiovascular phenotype 2016-10-26 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)
Illumina Clinical Services Laboratory,Illumina RCV000294174 SCV000377764 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348993 SCV000377765 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466525 SCV000562912 likely benign Long QT syndrome 2017-02-28 criteria provided, single submitter clinical testing

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