ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.844A>G (p.Lys282Glu) (rs201845569)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000241612 SCV000312941 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725913 SCV000340476 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Invitae RCV001085441 SCV001001634 likely benign Joubert syndrome; Meckel-Gruber syndrome 2020-11-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271771 SCV001453203 likely benign Meckel syndrome type 1 2020-01-02 no assertion criteria provided 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.