ClinVar Miner

Variants with conflicting interpretations studied for Very long chain acyl-CoA dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Very long chain acyl-CoA dehydrogenase deficiency: Y axis collection method of the submission for Very long chain acyl-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
219 46 5 38 17 0 27 78

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
Very long chain acyl-CoA dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 20 3 0 0
likely pathogenic 26 0 8 1 0
uncertain significance 8 20 0 10 9
likely benign 0 1 4 0 4
benign 0 0 9 11 0

Condition to condition summary #

Total conditions: 4
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 provided 0 24 5 25 5 0 22 52
Very long chain acyl-CoA dehydrogenase deficiency 274 27 5 23 11 0 8 42
not specified 0 12 0 12 13 0 6 27
Muscular Diseases; Rhabdomyolysis 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 78
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HGVS dbSNP
NM_000018.2(ACADVL):c.1182+1G>A rs113690956
NM_000018.3(ACADVL):c.-36A>G rs372592554
NM_000018.3(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.3(ACADVL):c.1077+1G>A rs140989450
NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.3(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.3(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.3(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083
NM_000018.3(ACADVL):c.1284G>A (p.Lys428=) rs35501596
NM_000018.3(ACADVL):c.128G>A (p.Gly43Asp) rs2230178
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.3(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113
NM_000018.3(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.3(ACADVL):c.138+2dup rs1555527548
NM_000018.3(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083
NM_000018.3(ACADVL):c.1434+14T>A rs202217537
NM_000018.3(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666
NM_000018.3(ACADVL):c.1473A>G (p.Leu491=) rs150518187
NM_000018.3(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970
NM_000018.3(ACADVL):c.1533-4T>A rs369986567
NM_000018.3(ACADVL):c.1581G>A (p.Pro527=) rs149436747
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.3(ACADVL):c.1678+23C>T rs147546456
NM_000018.3(ACADVL):c.1679-6G>A rs113994171
NM_000018.3(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648
NM_000018.3(ACADVL):c.1806_1807delCT (p.Cys603Terfs) rs796051917
NM_000018.3(ACADVL):c.1824C>T (p.Ile608=) rs146115467
NM_000018.3(ACADVL):c.1828-4C>G rs184559206
NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.3(ACADVL):c.1839G>A (p.Arg613=) rs79125791
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.3(ACADVL):c.266delC (p.Pro89Hisfs) rs771808680
NM_000018.3(ACADVL):c.298_299delCA (p.Gln100Valfs) rs786204713
NM_000018.3(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.3(ACADVL):c.388_390delGAG (p.Glu130del) rs387906251
NM_000018.3(ACADVL):c.428_467del40 (p.Gly143Alafs) rs758144859
NM_000018.3(ACADVL):c.482C>T (p.Ala161Val) rs796051908
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.3(ACADVL):c.578G>A (p.Gly193Asp) rs1220348903
NM_000018.3(ACADVL):c.62+6T>C rs1555527495
NM_000018.3(ACADVL):c.623-8C>T rs144996066
NM_000018.3(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.3(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.3(ACADVL):c.685C>T (p.Arg229Ter) rs786204536
NM_000018.3(ACADVL):c.68G>A (p.Arg23Gln) rs34153370
NM_000018.3(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.3(ACADVL):c.753-27C>T rs374911841
NM_000018.3(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.3(ACADVL):c.799_802delGTTA (p.Val267Glnfs) rs761204548
NM_000018.3(ACADVL):c.818G>C (p.Gly273Ala) rs150149784
NM_000018.3(ACADVL):c.829_831delGAG (p.Glu277del) rs796051913
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.3(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000018.3(ACADVL):c.887_888delCT (p.Pro296Argfs) rs753108198
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) rs387906252
NM_000018.3(ACADVL):c.996dupT (p.Ala333Cysfs) rs1057516843
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.105_109dup (p.Arg37Leufs) rs1555527532
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_001270448.1(ACADVL):c.1147C>T (p.Arg383Trp) rs766742117
NM_001270448.1(ACADVL):c.725C>T (p.Pro242Leu) rs201676770
NM_001270448.1(ACADVL):c.875A>C (p.Gln292Pro) rs776063244
NM_001270448.1(ACADVL):c.955-15A>G rs765390290
NM_001608.3(ACADL):c.997A>C (p.Lys333Gln) rs2286963

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