ClinVar Miner

Submissions for variant NM_000253.3(MTTP):c.502G>A (p.Val168Ile) (rs61750974)

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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000612694 SCV000734298 likely benign Abetalipoproteinaemia no assertion criteria provided clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000612694 SCV000743810 likely benign Abetalipoproteinaemia 2015-12-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000612694 SCV000446707 uncertain significance Abetalipoproteinaemia 2016-06-14 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.