ClinVar Miner

Submissions for variant NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) (rs28940884)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000003864 SCV000636278 benign UDPglucose-4-epimerase deficiency 2019-12-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592410 SCV000700362 other not provided 2017-07-14 criteria provided, single submitter clinical testing
GeneDx RCV000609606 SCV000730667 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Mendelics RCV000003864 SCV001135217 likely benign UDPglucose-4-epimerase deficiency 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000003864 SCV000024029 pathogenic UDPglucose-4-epimerase deficiency 1998-01-01 no assertion criteria provided literature only
GeneReviews RCV000003864 SCV000040659 pathologic UDPglucose-4-epimerase deficiency 2011-01-25 no assertion criteria provided curation Converted during submission to 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.