ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu)

dbSNP: rs1558603396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466871 SCV004215495 likely pathogenic Anterior segment dysgenesis 6 2022-05-07 criteria provided, single submitter clinical testing
OMIM RCV000023147 SCV000044438 pathogenic Glaucoma 3A 2009-12-01 no assertion criteria provided literature only

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