ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from NIHR Bioresource Rare Diseases, University of Cambridge and "benign" from any submitter

Minimum review status of the submission from NIHR Bioresource Rare Diseases, University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases, University of Cambridge:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_005141.5(FGB):c.534G>C (p.Lys178Asn) rs201909029 0.00038
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368

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.