ClinVar Miner

Variants with conflicting interpretations studied for carboxymethyl-dextran-A2-gadolinium-DOTA

Coded as:
Minimum review status of the submission for carboxymethyl-dextran-A2-gadolinium-DOTA: Collection method of the submission for carboxymethyl-dextran-A2-gadolinium-DOTA:
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 78 0 17 22 0 0 34

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
carboxymethyl-dextran-A2-gadolinium-DOTA uncertain significance likely benign benign
uncertain significance 0 2 1
likely benign 7 0 5
benign 12 12 0

Condition to condition summary #

Total conditions: 4
Download table as spreadsheet
Condition 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
Anophthalmia-microphthalmia syndrome 0 86 0 8 18 0 0 26
not provided 0 12 0 9 4 0 0 12
not specified 0 1 0 2 0 0 0 2
Abnormality of refraction 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001368894.2(PAX6):c.*356T>A rs774392481 0.00945
NM_019040.5(ELP4):c.*3994C>A rs79739975 0.00857
NM_019040.5(ELP4):c.*3425C>T rs3026399 0.00813
NM_019040.5(ELP4):c.*2740G>A rs149777109 0.00394
NM_019040.5(ELP4):c.*3242G>A rs187705792 0.00303
NM_019040.5(ELP4):c.*3713A>T rs138881442 0.00236
NM_019040.5(ELP4):c.*4932G>A rs181818313 0.00198
NM_019040.5(ELP4):c.*2040G>C rs183115097 0.00194
NM_019040.5(ELP4):c.*3904G>A rs3026397 0.00189
NM_019040.5(ELP4):c.*4974C>T rs138035131 0.00148
NM_019040.5(ELP4):c.*1302T>C rs146579778 0.00120
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_019040.5(ELP4):c.*2525C>A rs183433948 0.00096
NM_019040.5(ELP4):c.*2982G>A rs191399467 0.00076
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_019040.5(ELP4):c.*3528A>G rs143185259 0.00060
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_019040.5(ELP4):c.*1783T>G rs140971065 0.00030
NM_001368894.2(PAX6):c.985T>C (p.Leu329=) rs373147550 0.00024
NM_001368894.2(PAX6):c.-368G>A rs886048206 0.00006
NM_019040.5(ELP4):c.*3092T>C rs371438311 0.00006
NM_019040.5(ELP4):c.*2664G>A rs567720234 0.00005
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_019040.5(ELP4):c.*1714C>G rs180780893 0.00002
NM_001368894.2(PAX6):c.317G>A (p.Arg106Gln) rs769095184 0.00001
NM_019040.5(ELP4):c.*1811A>C rs185968715

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