ClinVar Miner

Variants with conflicting interpretations "pathogenic" from PreventionGenetics, part of Exact Sciences and "likely benign" from any submitter

Minimum review status of the submission from PreventionGenetics, part of Exact Sciences: Collection method of the submission from PreventionGenetics, part of Exact Sciences:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys) rs745795470 0.00002
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) rs797045139 0.00001

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.