ClinVar Miner

Submissions for variant NM_013390.3(CEMIP2):c.3144G>A (p.Trp1048Ter)

gnomAD frequency: 0.00001  dbSNP: rs766829965
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV001250714 SCV001190312 pathogenic Hypertelorism; Inguinal hernia; Abnormal sternum morphology; Myopia; Retinal dystrophy; Joint laxity 2020-01-01 criteria provided, single submitter research Variant observed in compound heterozygosity: c.[1358G>A];[3144G>A]

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.