ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) (rs139287784)

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
Baylor Miraca Genetics Laboratories, RCV000679857 SCV000807207 uncertain significance Fanconi anemia, complementation group P 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another variant in an 8-year-old female with limb reduction defects, mild malar hypoplasia, retrognathia, bluish slerae, mild language delay
Illumina Clinical Services Laboratory,Illumina RCV000351349 SCV000396850 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000351349 SCV000547444 benign Fanconi anemia 2017-12-22 criteria provided, single submitter clinical testing

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.