ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) (rs188224114)

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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 RCV000246733 SCV000318515 benign Cardiovascular phenotype 2016-06-14 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 RCV000717686 SCV000848542 benign History of neurodevelopmental disorder 2016-06-14 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 RCV000374014 SCV000337384 benign not specified 2015-11-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000351490 SCV000377828 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393215 SCV000377829 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000205361 SCV000260081 benign Long QT syndrome 2018-01-04 criteria provided, single submitter clinical testing

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