ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) (rs756364065)

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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 RCV000253383 SCV000320563 likely benign Cardiovascular phenotype 2015-12-01 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000275587 SCV000377878 uncertain significance Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311551 SCV000377879 uncertain significance Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000420944 SCV000520594 likely benign not specified 2017-03-15 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 RCV000864490 SCV001005297 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing

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