ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.1545dup (p.Glu516Ter)

dbSNP: rs774488954
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biology Pathology Center, Lille University Hospital RCV000239604 SCV000268122 pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation 2016-04-12 criteria provided, single submitter clinical testing
OMIM RCV000246845 SCV000320730 pathogenic Vas deferens, congenital bilateral aplasia of, X-linked 2016-09-30 no assertion criteria provided literature only

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