ClinVar Miner

Submissions for variant NC_000007.13:g.(?_94037139)_(94037712_?)dup

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000708538 SCV000837648 pathogenic Ehlers-Danlos syndrome, classic type; Osteogenesis imperfecta type I 2018-06-01 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exons 13-17. Although the exact nature of the event is unknown, it is likely that it results in duplication of exons 13-17 that are inserted into intron 17 and within that duplication exons 13-15 are inverted. This is expected to result in an absent or disrupted protein product. This variant has been observed to be de novo in an individual affected with osteogenesis imperfecta (Invitae). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001861931 SCV002240715 pathogenic Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2018-04-16 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exons 13-17. Although the exact nature of the event is unknown, it is likely that it results in duplication of exons 13-17 that are inserted into intron 17 and within that duplication exons 13-15 are inverted. This is expected to result in an absent or disrupted protein product. This variant has been observed to be de novo in an individual affected with osteogenesis imperfecta (Invitae). For these reasons, this variant has been classified as Pathogenic.

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.