ClinVar Miner

Variants with conflicting interpretations studied for Erythrocytosis 6, familial

Coded as:
Minimum review status of the submission for Erythrocytosis 6, familial: Y axis collection method of the submission for Erythrocytosis 6, familial:
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 Variants with at least 2 submissions 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 kind of conflict
0 1 0 1 0 36 1 36

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.

All conditions
Erythrocytosis 6, familial likely pathogenic uncertain significance other
pathogenic 1 1 36

Condition to condition summary #

Total conditions: 41
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
HEMOGLOBIN ALBERTA 0 0 0 0 0 1 0 1
HEMOGLOBIN ANDREW-MINNEAPOLIS 0 0 0 0 0 1 0 1
HEMOGLOBIN BARCELONA 0 0 0 0 0 1 0 1
HEMOGLOBIN BETHESDA 0 0 0 0 0 1 0 1
HEMOGLOBIN BRIGHAM 0 0 0 0 0 1 0 1
HEMOGLOBIN BRISBANE 0 0 0 0 0 1 0 1
HEMOGLOBIN BRITISH COLUMBIA 0 0 0 0 0 1 0 1
HEMOGLOBIN CHEMILLY 0 0 0 0 0 1 0 1
HEMOGLOBIN COWTOWN 0 0 0 0 0 1 0 1
HEMOGLOBIN CRETEIL 0 0 0 0 0 1 0 1
HEMOGLOBIN FORT GORDON 0 0 0 0 0 1 0 1
HEMOGLOBIN GREAT LAKES 0 0 0 0 0 1 0 1
HEMOGLOBIN HEATHROW 0 0 0 0 0 1 0 1
HEMOGLOBIN HELSINKI 0 0 0 0 0 1 0 1
HEMOGLOBIN HIROSHIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN HOTEL-DIEU 0 0 0 0 0 1 0 1
HEMOGLOBIN KEMPSEY 0 0 0 0 0 1 0 1
HEMOGLOBIN LITTLE ROCK 0 0 0 0 0 1 0 1
HEMOGLOBIN MALMO 0 0 0 0 0 1 0 1
HEMOGLOBIN MCKEES ROCKS 0 0 0 0 0 1 0 1
HEMOGLOBIN NANCY 0 0 0 0 0 1 0 1
HEMOGLOBIN OHIO 0 0 0 0 0 1 0 1
HEMOGLOBIN OLYMPIA 0 0 0 0 0 1 0 1
HEMOGLOBIN OSLER 0 0 0 0 0 1 0 1
HEMOGLOBIN PALMERSTON NORTH 0 0 0 0 0 1 0 1
HEMOGLOBIN POTOMAC 0 0 0 0 0 1 0 1
HEMOGLOBIN PROVIDENCE 0 0 0 0 0 1 0 1
HEMOGLOBIN RADCLIFFE 0 0 0 0 0 1 0 1
HEMOGLOBIN RAHERE 0 0 0 0 0 1 0 1
HEMOGLOBIN RAINIER 0 0 0 0 0 1 0 1
HEMOGLOBIN SAINT JACQUES 0 0 0 0 0 1 0 1
HEMOGLOBIN SAN DIEGO 0 0 0 0 0 1 0 1
HEMOGLOBIN SYRACUSE 0 0 0 0 0 1 0 1
HEMOGLOBIN TY GARD 0 0 0 0 0 1 0 1
HEMOGLOBIN VANDERBILT 0 0 0 0 0 1 0 1
HEMOGLOBIN WOOD 0 0 0 0 0 1 0 1
HEMOGLOBIN YAKIMA 0 0 0 0 0 1 0 1
HEMOGLOBIN YORK 0 0 0 0 0 1 0 1
HEMOGLOBIN YPSILANTI 0 0 0 0 0 1 0 1
beta Thalassemia 0 0 0 1 0 0 0 1
not provided 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
HBB, HIS143GLN
HBB, TYR145ASN-TO-ASP
NM_000518.4(HBB):c.206T>A (p.Leu69His) rs33972593
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) rs33987903
NM_000518.4(HBB):c.248A>T (p.Lys83Met) rs33987903
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) rs33917628
NM_000518.4(HBB):c.283G>C (p.Asp95His) rs33959340
NM_000518.4(HBB):c.293A>T (p.His98Leu) rs33951978
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) rs33954595
NM_000518.4(HBB):c.298G>C (p.Asp100His) rs33954595
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) rs33954595
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) rs33971048
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) rs33971048
NM_000518.4(HBB):c.299A>T (p.Asp100Val) rs33971048
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) rs33965000
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) rs33966487
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) rs33983276
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) rs33921821
NM_000518.4(HBB):c.439C>G (p.His147Asp) rs33961444
NM_000518.4(HBB):c.440A>C (p.His147Pro) rs33954264
NM_000518.4(HBB):c.440A>T (p.His147Leu) rs33954264
NM_000518.4(HBB):c.70G>T (p.Val24Phe) rs33929459
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) rs33991993
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) rs35351128
NM_000518.5(HBB):c.294C>R (p.His98Gln) rs34515413
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) rs33937393
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) rs35209591
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) rs35067717
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) rs34980264
NM_000518.5(HBB):c.431A>C (p.His144Pro) rs33918338
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) rs35020585
NM_000518.5(HBB):c.436T>C (p.Tyr146His) rs33949869
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) rs35117167
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) rs35291591
NM_000518.5(HBB):c.61G>A (p.Val21Met) rs35890959

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