ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1047G>A (p.Gln349=)

gnomAD frequency: 0.00001  dbSNP: rs986687163
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
CeGaT Center for Human Genetics Tuebingen RCV000996750 SCV001151656 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001179297 SCV001343915 likely benign Familial hypercholesterolemia 2018-07-20 criteria provided, single submitter clinical testing
Invitae RCV001179297 SCV003003497 likely benign Familial hypercholesterolemia 2023-10-22 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.