ClinVar Miner

Variants from Wellcome Centre for Mitochondrial Research,Newcastle University with conflicting interpretations

Location: United Kingdom — Primary collection method: clinical testing
Minimum review status of the submission from Wellcome Centre for Mitochondrial Research,Newcastle University: Collection method of the submission from Wellcome Centre for Mitochondrial Research,Newcastle University:
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
74 20 0 7 0 0 4 9

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
Wellcome Centre for Mitochondrial Research,Newcastle University likely pathogenic uncertain significance
pathogenic 7 4

Submitter to submitter summary #

Total submitters: 10
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
GeneDx 0 10 0 3 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 2 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 1 0 0 0 1
Invitae 0 3 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 7 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.9185T>C rs199476138
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001172477.1(RRM2B):c.-5G>A rs515726180
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_018480.5(TMEM126B):c.635G>T (p.Gly212Val) rs141542003
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105

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