ClinVar Miner

Submissions for variant NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) (rs1800440)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153124 SCV000202584 benign not specified 2014-03-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153124 SCV000302290 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296245 SCV000430268 likely benign Glaucoma 3, primary congenital, A 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 Praxis fuer Humangenetik Tuebingen RCV000997117 SCV001152234 likely benign not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV001521679 SCV001731065 benign Congenital glaucoma 2020-10-23 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001657869 SCV001876479 benign Anterior segment dysgenesis 6 2021-07-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000296245 SCV001876480 benign Glaucoma 3, primary congenital, A 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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.