ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.436G>A (p.Val146Ile) (rs6040067)

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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 RCV000035335 SCV000058983 benign not specified 2011-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000035335 SCV000303032 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270698 SCV000432947 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332531 SCV000432948 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000645023 SCV000766762 benign Alagille syndrome 1 2018-01-02 criteria provided, single submitter clinical testing

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