ClinVar Miner

Submissions for variant NC_000017.11:g.(?_36537082)_(36538636_?)del

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
Labcorp Genetics (formerly Invitae), Labcorp RCV000708375 SCV000837485 uncertain significance Hyperphosphatasia with intellectual disability syndrome 5 2018-04-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the PIGW gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals with PIGW-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PIGW cause disease. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.