ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)

dbSNP: rs751768343
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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 RCV001004165 SCV001162947 pathogenic Glaucoma 3A criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505536 SCV002797567 likely pathogenic Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 2022-03-28 criteria provided, single submitter clinical testing

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