ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) (rs200457227)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000785611 SCV000924190 likely pathogenic Tyrosinase-positive oculocutaneous albinism criteria provided, single submitter research
University of Washington Center for Mendelian Genomics,University of Washington RCV000755094 SCV000882912 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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.