ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and PharmGKB

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
0 0 0 0 0 39 0 39

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.

drug response
pathogenic 15
likely pathogenic 4
uncertain significance 5
likely benign 1
benign 4
other 10

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
CYP2C19*3 rs4986893
CYP2C19*4A rs28399504
CYP2C9*2 rs1799853
CYP2C9*3 rs1057910
CYP2C9*5 rs28371686
CYP2D6*4 rs3892097
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000769.1(CYP2C19):c.681G>A (p.Pro227=) rs4244285
NM_001348946.2(ABCB1):c.2677T>G (p.Ser893Ala) rs2032582
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_178510.2(ANKK1):c.2137G>A (p.Glu713Lys) rs1800497
UGT1A1*6 rs4148323

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