ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) (rs139872789)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000254153 SCV000319979 benign Cardiovascular phenotype 2015-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718643 SCV000849507 benign History of neurodevelopmental disorder 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000124089 SCV000167498 benign not specified 2015-03-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000268260 SCV000377884 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323383 SCV000377885 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000466096 SCV000562869 benign Long QT syndrome 2017-12-22 criteria provided, single submitter clinical testing

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