ClinVar Miner

Submissions for variant NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp)

dbSNP: rs587777236
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268217 SCV001446981 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000106317 SCV000143780 pathogenic Hereditary sclerosing poikiloderma with tendon and pulmonary involvement 2013-12-05 no assertion criteria provided literature only
GeneReviews RCV000106317 SCV000323079 not provided Hereditary sclerosing poikiloderma with tendon and pulmonary involvement no assertion provided literature only May be associated with less severe extracutaneous phenotype. Further studies are needed.

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.