ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=) (rs758461435)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000378437 SCV000377820 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000267500 SCV000377821 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000553293 SCV000627530 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617397 SCV000736121 likely benign Cardiovascular phenotype 2017-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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