ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.535+44A>G

gnomAD frequency: 0.99385  dbSNP: rs1878844
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
GeneDx RCV001659625 SCV001881947 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789493 SCV002031880 benign Thrombophilia due to protein C deficiency, autosomal dominant 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789494 SCV002031881 benign Thrombophilia due to protein C deficiency, autosomal recessive 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001659625 SCV005245165 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.