ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs)

dbSNP: rs2125316235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001449672 SCV004808242 pathogenic Glaucoma 3A 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV001449671 SCV001652920 pathogenic Anterior segment dysgenesis 6 2000-02-12 no assertion criteria provided literature only
OMIM RCV001449672 SCV001652921 pathogenic Glaucoma 3A 2000-02-12 no assertion criteria provided literature only

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