ClinVar Miner

Variants with conflicting interpretations studied for Isovaleryl-CoA dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Isovaleryl-CoA dehydrogenase deficiency: Y axis collection method of the submission for Isovaleryl-CoA dehydrogenase deficiency:
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
91 9 0 16 3 0 7 24

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
Isovaleryl-CoA dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 7 2 0 0
likely pathogenic 9 0 4 0 0
uncertain significance 2 5 0 3 1
likely benign 0 0 1 0 5
benign 0 0 1 3 0

Condition to condition summary #

Total conditions: 3
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
Isovaleryl-CoA dehydrogenase deficiency 108 3 0 8 2 0 4 13
not specified 0 2 0 7 3 0 0 9
not provided 0 6 0 4 0 0 4 8

All variants with conflicting interpretations #

Total variants: 24
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HGVS dbSNP
NM_002225.3(IVD):c.-39G>A rs114259808
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.4(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.4(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412

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