ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) (rs113869350)

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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 RCV000243680 SCV000319748 benign Cardiovascular phenotype 2015-07-28 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
Ambry Genetics RCV000716456 SCV000847297 benign History of neurodevelopmental disorder 2015-07-28 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
Illumina Clinical Services Laboratory,Illumina RCV000261233 SCV000377592 likely benign Brugada syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332668 SCV000377593 likely benign Timothy syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590077 SCV000697543 benign not provided 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV000227790 SCV000285588 benign Long QT syndrome 2018-01-02 criteria provided, single submitter clinical testing

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