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: 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 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
557 56 0 44 12 0 16 67

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 39 7 0 0
likely pathogenic 39 0 14 0 0
uncertain significance 7 14 0 11 1
likely benign 0 0 11 0 5
benign 0 0 1 5 0

Condition to condition summary #

Total conditions: 1
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
Isovaleryl-CoA dehydrogenase deficiency 557 56 0 44 12 0 16 67

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_002225.5(IVD):c.-48G>A rs114259808 0.01080
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128 0.00938
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412 0.00069
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234 0.00005
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.995G>T (p.Arg332Leu) rs745464766

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