ClinVar Miner

Submissions for variant NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser)

gnomAD frequency: 0.11965  dbSNP: rs1800440
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153124 SCV000202584 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153124 SCV000302290 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296245 SCV000430268 likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen RCV000997117 SCV001152234 likely benign not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001521679 SCV001731065 benign Congenital glaucoma 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657869 SCV001876479 benign Anterior segment dysgenesis 6 2021-07-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000296245 SCV001876480 benign Glaucoma 3A 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000997117 SCV001950519 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15958554, 11854439, 15486049, 23861929, 10426814, 24604202)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000153124 SCV002051047 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498727 SCV002808437 likely benign Glaucoma 3A; Glaucoma 3, primary infantile, B; Anterior segment dysgenesis 6 2022-05-12 criteria provided, single submitter clinical testing

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