ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) (rs104893622)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000008173 SCV000028378 pathogenic Glaucoma 3, primary congenital, A 1998-02-01 no assertion criteria provided literature only
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000008173 SCV000891495 uncertain significance Glaucoma 3, primary congenital, A 2017-12-30 no assertion criteria provided curation

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