ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1117-17T>C

gnomAD frequency: 0.00078  dbSNP: rs200081580
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242468 SCV000303418 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001341989 SCV001535888 likely benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001341989 SCV001988402 uncertain significance not provided 2019-04-24 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Nucleotide substitution has no predicted effect on splicing and is not conserved across species; This variant is associated with the following publications: (PMID: 29345414)
Genome-Nilou Lab RCV001797695 SCV002040036 uncertain significance Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
Molecular Genetics, University Hospital Bordeaux RCV001797695 SCV005049511 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2023-06-04 criteria provided, single submitter clinical testing

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.