ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Myriad Women's Health, Inc.

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
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
92 224 0 40 0 0 0 40

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.

likely pathogenic
pathogenic 40

All variants with conflicting interpretations #

Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys) rs121964992
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000155.4(GALT):c.413C>T (p.Thr138Met) rs111033686
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000518.5(HBB):c.-78A>G rs33931746
NM_000518.5(HBB):c.217dup (p.Ser73fs) rs33969853
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) rs121907972
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641

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