ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs)

dbSNP: rs2125314883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001581574 SCV001813301 likely pathogenic not provided 2019-08-22 criteria provided, single submitter clinical testing Frameshift variant in the C-terminus predicted to result in protein truncation, as the last 177 amino acids are lost and replaced with 7 incorrect amino acids; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002501938 SCV002813498 likely pathogenic Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 2022-04-05 criteria provided, single submitter clinical testing

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