ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) (rs34534613)

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Total submissions: 6
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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 RCV000079275 SCV000050756 likely benign not provided 2013-06-24 criteria provided, single submitter research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173030 SCV000111145 likely benign not specified 2014-07-16 criteria provided, single submitter clinical testing
Invitae RCV001082290 SCV000218722 benign Long QT syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622244 SCV000735199 benign Cardiovascular phenotype 2015-09-04 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Ambry Genetics RCV000716165 SCV000847002 benign History of neurodevelopmental disorder 2015-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Mendelics RCV000306251 SCV001138622 benign Timothy syndrome 2019-05-28 criteria provided, single submitter clinical testing

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