ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) (rs111298509)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755887 SCV000883533 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619811 SCV000735344 benign Cardiovascular phenotype 2016-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716181 SCV000847018 benign History of neurodevelopmental disorder 2016-03-15 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171800 SCV000055264 benign not specified 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000361478 SCV000377900 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266753 SCV000377901 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000234266 SCV000285596 benign Long QT syndrome 2018-01-05 criteria provided, single submitter clinical testing
PreventionGenetics RCV000171800 SCV000305455 benign not specified criteria provided, single submitter clinical testing

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