ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) (rs201572666)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000392982 SCV000432875 uncertain significance Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299839 SCV000432876 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000867990 SCV001009271 benign not provided 2018-05-03 criteria provided, single submitter clinical testing

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