ClinVar Miner

Variants with conflicting interpretations studied for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

Coded as:
Minimum review status of the submission for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency: Y axis collection method of the submission for Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase 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
189 104 0 18 19 0 2 37

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
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 12 10
likely benign 1 1 0 16
benign 0 0 2 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 specified 0 7 0 17 17 0 0 33
not provided 0 18 0 12 7 0 0 19
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 0 12 0 1 0 0 1 2
Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 301 28 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_001169109.1(SCO2):c.-14+121C>T rs770533125
NM_001169109.1(SCO2):c.-14+470G>A rs377497287
NM_001303.3(COX10):c.1038G>A (p.Ser346=) rs2230355
NM_001303.3(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.3(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.3(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.3(COX10):c.928+12G>A rs200573622
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991
NM_001953.4(TYMP):c.*10G>A rs369012029
NM_001953.4(TYMP):c.*3C>T rs372620403
NM_001953.4(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.4(TYMP):c.972C>T (p.Ala324=) rs131804
NM_004376.6(COX15):c.1120T>C (p.Phe374Leu) rs2231687
NM_004376.6(COX15):c.164G>A (p.Arg55Lys) rs777532861
NM_004376.6(COX15):c.582+14A>G rs79410539
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004589.3(SCO1):c.172C>T (p.Pro58Ser) rs1802083
NM_004589.3(SCO1):c.297A>G (p.Ala99=) rs11538237
NM_004589.3(SCO1):c.594A>G (p.Pro198=) rs2271228
NM_005138.2(SCO2):c.201C>T (p.Phe67=) rs61748568
NM_005138.2(SCO2):c.237G>A (p.Arg79=) rs150485659
NM_005138.2(SCO2):c.327C>T (p.His109=) rs75485962
NM_005138.2(SCO2):c.582C>T (p.Ser194=) rs131811
NM_005138.2(SCO2):c.763C>A (p.Arg255=) rs112793292
NM_005138.2(SCO2):c.776C>T (p.Ala259Val) rs8139305
NM_014929.3(FASTKD2):c.-30T>C rs145438423
NM_014929.3(FASTKD2):c.-69C>T rs16838842
NM_014929.3(FASTKD2):c.1295G>A (p.Arg432Gln) rs372022584
NM_014929.3(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705
NM_014929.3(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568
NM_014929.3(FASTKD2):c.991-13G>C rs13421046
NM_016360.3(TACO1):c.498T>C (p.His166=) rs17549732
NM_032374.4(COA8):c.353T>C (p.Phe118Ser) rs587777786

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