ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) (rs199694744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171620 SCV000050655 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000397157 SCV000377935 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307698 SCV000377936 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001084323 SCV000627591 likely benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617997 SCV000737776 likely benign Cardiovascular phenotype 2017-11-07 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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