ClinVar Miner

Variants with conflicting interpretations studied for Mitochondrial complex III deficiency

Coded as:
Minimum review status of the submission for Mitochondrial complex III deficiency: Y axis collection method of the submission for Mitochondrial complex III 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
83 11 0 11 11 0 3 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
Mitochondrial complex III deficiency pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 4 2 0 0
likely pathogenic 1 0 1 0 0
uncertain significance 1 2 0 5 7
likely benign 0 0 0 0 7

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 0 0 7 11 0 0 18
not provided 0 6 0 6 1 0 2 8
GRACILE syndrome 0 16 0 2 0 0 1 3
Mitochondrial complex III deficiency 113 2 0 1 0 0 1 2
Bjornstad syndrome with mild mitochondrial complex III deficiency 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_004328.4(BCS1L):c.-14G>A rs367721351
NM_004328.4(BCS1L):c.-43G>A rs145989550
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_004328.4(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_004328.4(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_004328.4(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_004328.4(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_004328.4(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_014402.4(UQCRQ):c.*18C>T rs768723651
NM_014402.4(UQCRQ):c.108C>G (p.Pro36=) rs36093416
NM_017775.3(TTC19):c.-107A>T rs79724115
NM_017775.3(TTC19):c.-15G>A rs73276080
NM_017775.3(TTC19):c.-169C>G rs73276077
NM_017775.3(TTC19):c.-178C>T rs753100200
NM_017775.3(TTC19):c.-340G>C rs200004394
NM_017775.3(TTC19):c.-347C>A rs60636875
NM_017775.3(TTC19):c.1041A>G (p.Gln347=) rs77955179
NM_017775.3(TTC19):c.146C>T (p.Pro49Leu) rs537063695
NM_017775.3(TTC19):c.573G>A (p.Ala191=) rs58517927
NM_017775.3(TTC19):c.758C>T (p.Pro253Leu) rs78882347

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