ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) (rs1051419)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000125430 SCV000303027 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250727 SCV000317651 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000364728 SCV000432883 benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270345 SCV000432884 benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000125430 SCV000861679 benign not specified 2018-05-30 criteria provided, single submitter clinical testing

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