ClinVar Miner

Variants with conflicting interpretations studied for Glutaric aciduria, type 2

Coded as:
Minimum review status of the submission for Glutaric aciduria, type 2: Y axis collection method of the submission for Glutaric aciduria, type 2:
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
56 21 0 13 7 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
Glutaric aciduria, type 2 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 2 0 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 3 1 0 4 4
likely benign 0 0 1 0 6
benign 0 0 0 3 0

Condition to condition summary #

Total conditions: 6
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
not specified 0 4 0 7 7 0 0 13
not provided 0 13 0 5 2 0 4 11
Glutaric aciduria, type 2 93 3 0 3 1 0 0 4
Glutaric acidemia IIC 0 0 0 2 0 0 0 2
Glutaric acidemia iic, late-onset 0 1 0 1 0 0 0 1
Inborn genetic diseases 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 23
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HGVS dbSNP
NM_000126.3(ETFA):c.186+7A>G rs184587113
NM_000126.3(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000126.3(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.3(ETFA):c.562+11A>T rs143834701
NM_000126.3(ETFA):c.667C>T (p.Arg223Ter) rs769976586
NM_001014763.1(ETFB):c.278dupC (p.Pro94Thrfs) rs74357706
NM_001985.2(ETFB):c.58-212A>C rs143144671
NM_001985.2(ETFB):c.58-313_58-312insCTGTGG rs61361626
NM_004453.2(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.3(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.3(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387
NM_004453.3(ETFDH):c.1468+15A>C rs146561214
NM_004453.3(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.3(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.3(ETFDH):c.1690+15C>T rs11931339
NM_004453.3(ETFDH):c.1773_1774delAT (p.Cys592Terfs) rs767795266
NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.3(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.3(ETFDH):c.381C>T (p.Leu127=) rs149278633
NM_004453.3(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004453.3(ETFDH):c.91A>G (p.Thr31Ala) rs182144074

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