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 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
32 45 5 8 1 0 7 16

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 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 5 8 7 1 1
uncertain significance 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 22
Download table as spreadsheet
Submitter 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
GeneReviews 0 10 5 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2 0 1 1 0 1 3
GeneDx 0 11 0 3 0 0 0 3
Invitae 0 4 0 0 0 0 3 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 2 0 1 0 0 2 3
Athena Diagnostics Inc 0 8 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 4 0 1 0 0 1 2
PreventionGenetics 0 0 0 0 1 0 1 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 8 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 1 0 0 0 0 1 1
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 0 0 0 0 0 1 1
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 1 0 0 0 0 1 1
Ambry Genetics 0 6 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_001080114.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001927.3(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.3(DES):c.735+20C>T rs151226355
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_005262.2(GFER):c.199delC (p.Arg67Glyfs) rs863224028
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_017909.3(RMND1):c.713A>G rs144972972
NM_021830.4(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.4(TWNK):c.1121G>A (p.Arg374Gln) rs1554887097
NM_032380.4(GFM2):c.569G>A (p.Arg190Gln) rs761283105
m.8344A>G rs118192098

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