ClinVar Miner

Submissions for variant NM_001079858.3(ADGRG2):c.2002_2006delinsAGA (p.Leu668fs)

dbSNP: rs879255539
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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 RCV000239601 SCV000268121 pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation 2016-04-12 criteria provided, single submitter clinical testing
OMIM RCV000242233 SCV000320729 pathogenic Vas deferens, congenital bilateral aplasia of, X-linked 2024-05-24 no assertion criteria provided literature only

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