ClinVar Miner

Variants with conflicting interpretations studied for Fatal Infantile Cardioencephalomyopathy

Coded as:
Minimum review status of the submission for Fatal Infantile Cardioencephalomyopathy: Collection method of the submission for Fatal Infantile Cardioencephalomyopathy:
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
3 3 0 9 11 0 0 19

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
Fatal Infantile Cardioencephalomyopathy uncertain significance likely benign benign
uncertain significance 0 8 3
likely benign 1 0 7
benign 0 2 0

Condition to condition summary #

Total conditions: 3
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
not provided 0 3 0 8 8 0 0 16
not specified 0 3 0 7 4 0 0 10
TYMP-related condition 0 0 0 1 2 0 0 3

All variants with conflicting interpretations #

Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_001953.5(TYMP):c.1028T>G (p.Phe343Cys) rs762630777 0.00036
NM_001953.5(TYMP):c.995C>T (p.Ala332Val) rs778306525 0.00036
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_001953.5(TYMP):c.*10G>A rs369012029 0.00011
NM_001953.5(TYMP):c.*3C>T rs372620403 0.00011
NM_001953.5(TYMP):c.1137G>A (p.Glu379=) rs764142194 0.00008
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1044G>A (p.Ala348=) rs886057633
NM_005138.3(SCO2):c.-135_-132dup rs143413019

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