ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.3275+97T>C

gnomAD frequency: 0.08642  dbSNP: rs17424482
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
Genome-Nilou Lab RCV001543268 SCV001761805 benign Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001647386 SCV001860564 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647386 SCV005240607 benign not provided criteria provided, single submitter not provided

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.