ClinVar Miner

Variants from ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen:
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
155 29 0 11 1 0 3 15

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 submitters
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 2 0 0
likely pathogenic 8 0 1 0
uncertain significance 1 0 0 0
benign 1 0 1 1

Submitter to submitter summary #

Total submitters: 9
Download table as spreadsheet
Submitter 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
Mendelics 0 0 0 4 0 0 1 5
Illumina Laboratory Services, Illumina 0 12 0 2 1 0 1 4
Wellcome Centre for Mitochondrial Research, Newcastle University 0 6 0 3 0 0 0 3
OMIM 0 4 0 1 0 0 1 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 1 0 0 0 1
Invitae 0 18 0 1 0 0 0 1
Natera, Inc. 0 8 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 1 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_014297.5(ETHE1):c.*55G>T rs201842186 0.00160
NM_014297.5(ETHE1):c.505+1G>A rs935855792 0.00001
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-ND6):m.14513_14514del rs1603224770
NC_012920.1:m.5631G>A rs786200950
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs) rs606231189
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys) rs863224148
m.12147G>A rs121434474
m.14674T>C rs387906421
m.14709T>C rs121434453
m.5650G>A rs121434457
m.616T>C rs387906420
m.8313G>A rs118192101

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