ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) (rs41276710)

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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 RCV000245788 SCV000318646 benign Cardiovascular phenotype 2015-06-26 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
Ambry Genetics RCV000715573 SCV000846402 benign History of neurodevelopmental disorder 2015-06-26 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,Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079292 SCV000111162 benign not specified 2013-07-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370961 SCV000377860 benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269480 SCV000377861 benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456879 SCV000562928 benign Long QT syndrome 2017-08-08 criteria provided, single submitter clinical testing

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