ClinVar Miner

Variants with conflicting interpretations "benign" from GeneDx and "protective" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397 0.40553
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396 0.40465
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_178135.5(HSD17B13):c.812+2dup rs72613567 0.19453
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu) rs8177374 0.10979
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485
Single allele rs1556502214

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.