ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.2096dup (p.Phe700fs)

dbSNP: rs1601856142
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biology Pathology Center, Lille University Hospital RCV000852390 SCV000995074 pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation 2017-09-01 criteria provided, single submitter clinical testing

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