ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) (rs115216455)

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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 RCV000620146 SCV000735693 benign Cardiovascular phenotype 2015-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718894 SCV000849758 benign History of neurodevelopmental disorder 2015-11-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079295 SCV000111165 benign not specified 2013-07-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347328 SCV000377888 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383165 SCV000377889 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000468235 SCV000562875 benign Long QT syndrome 2017-12-29 criteria provided, single submitter clinical testing

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