ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2073T>C (p.Cys691=) (rs200648035)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000306772 SCV000343915 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291006 SCV000432913 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000345982 SCV000432914 uncertain significance Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000525761 SCV000645526 likely benign Alagille syndrome 1 2017-05-10 criteria provided, single submitter clinical testing

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