ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) (rs112170830)

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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 RCV000719988 SCV000850862 likely benign History of neurodevelopmental disorder 2017-03-29 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 RCV000276911 SCV000377798 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325421 SCV000377799 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560728 SCV000627516 likely benign Long QT syndrome 2017-05-30 criteria provided, single submitter clinical testing

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