ClinVar Miner

Variants with conflicting interpretations "likely benign" from GeneDx and "benign" from Natera, Inc.

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: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=) rs113284476 0.01323
NM_000352.6(ABCC8):c.2041-28C>T rs116419577 0.01293
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys) rs138310419 0.01201
NM_000352.6(ABCC8):c.1333-1032G>A rs11821525 0.01157
NM_000255.4(MMUT):c.-39-26T>A rs144458425 0.00764
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) rs5310 0.00605
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=) rs58820146 0.00381
NM_000352.6(ABCC8):c.2556+30C>T rs76285388 0.00367
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=) rs149682756 0.00308
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_001003722.2(GLE1):c.433-15A>C rs752897261 0.00213
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_000352.6(ABCC8):c.3399+45C>A rs200276273

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.