ClinVar Miner

Variants with conflicting interpretations studied for Achromatopsia 3

Coded as:
Minimum review status of the submission for Achromatopsia 3: Y axis collection method of the submission for Achromatopsia 3:
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
95 6 2 19 2 0 4 23

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
Achromatopsia 3 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 2 16 1 0 0
likely pathogenic 16 0 3 2 0
uncertain significance 1 2 0 1 1

Condition to condition summary #

Total conditions: 13
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
Achromatopsia 3 104 3 2 13 0 0 2 17
not provided 0 3 1 4 0 0 2 7
Achromatopsia 0 4 1 4 0 0 0 5
Abnormality of the eye 0 0 1 2 0 0 0 3
not specified 0 0 0 0 2 0 2 3
CNGB3-Related Disorders 0 0 1 1 0 0 0 2
Leber congenital amaurosis 0 1 1 1 0 0 0 2
Retinitis pigmentosa 0 1 1 0 0 0 1 2
Stargardt disease 1 0 0 1 1 0 0 1 2
Cone-rod dystrophy 0 0 1 0 0 0 0 1
Macular dystrophy 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 1 0 0 0 0 1
Stargardt Disease, Recessive 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_019098.4(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340
NM_019098.4(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792
NM_019098.4(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.4(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.4(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.4(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.4(CNGB3):c.1397T>C (p.Met466Thr) rs35010099
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_019098.4(CNGB3):c.1480+1G>A rs1057516825
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_019098.4(CNGB3):c.1579-1G>A rs1057516504
NM_019098.4(CNGB3):c.1781+1delG rs1554607546
NM_019098.4(CNGB3):c.2103+1G>A rs1554604767
NM_019098.4(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019098.4(CNGB3):c.644-1G>C rs201794629
NM_019098.4(CNGB3):c.646C>T (p.Arg216Ter) rs768345097
NM_019098.4(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.4(CNGB3):c.991-3T>G rs773372519

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