ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) (rs753620277)

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
Illumina Clinical Services Laboratory,Illumina RCV000381496 SCV000404299 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296253 SCV000404300 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000668894 SCV000793568 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-08-18 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.