ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser)

gnomAD frequency: 0.35167  dbSNP: rs1056827
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078127 SCV000109965 benign not specified 2013-08-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078127 SCV000302292 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000370643 SCV000430284 benign Glaucoma 3A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001518261 SCV001726924 benign Congenital glaucoma 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001650895 SCV001868707 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26681220, 25619313, 26283052, 10739169, 18575334, 23861929, 18573508, 11854439, 22177211, 19820397, 24591815, 19383894, 15958554)
Genome-Nilou Lab RCV001664266 SCV001876486 benign Anterior segment dysgenesis 6 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000370643 SCV001876487 benign Glaucoma 3A 2021-07-30 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078127 SCV002051058 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490674 SCV002797318 benign Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 2022-04-28 criteria provided, single submitter clinical testing

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