ClinVar Miner

Variants with conflicting interpretations between GeneDx and 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:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
10357 278 0 24 19 0 2 45

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0 0
likely pathogenic 3 0 2 0 0
uncertain significance 0 0 0 7 4
likely benign 0 0 7 0 17
benign 0 0 1 3 0

All variants with conflicting interpretations #

Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
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_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
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_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
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_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000128.4(F11):c.797G>A (p.Ser266Asn) rs145168351 0.00081
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro) rs778646190 0.00049
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000255.4(MMUT):c.1333-8C>T rs199555550 0.00017
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_004006.3(DMD):c.1184G>A (p.Arg395Gln) rs148511512 0.00006
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_000352.6(ABCC8):c.3399+45C>A rs200276273
NM_000352.6(ABCC8):c.3650+4C>G rs374315114
NM_000492.4(CFTR):c.1210-2A>C rs397508179
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955

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