ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2214A>C (p.Thr738=) (rs1801140)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035328 SCV000058976 benign not specified 2010-09-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035328 SCV000303012 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000251451 SCV000318410 benign Cardiovascular phenotype 2015-06-29 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 RCV000372559 SCV000432909 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287430 SCV000432910 benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing

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