ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp)

gnomAD frequency: 0.00001  dbSNP: rs200724605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454402 SCV000538765 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 individual with primary open angle glaucoma. Disease is adult-onset, does not meet crieteria for reporting.
Fulgent Genetics, Fulgent Genetics RCV002506086 SCV002816890 uncertain significance Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 2021-10-08 criteria provided, single submitter clinical testing

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