ClinVar Miner

Variants from Department of Medical Genetics,University Hospital of North Norway with conflicting interpretations

Location: Norway — Primary collection method: clinical testing
Minimum review status of the submission from Department of Medical Genetics,University Hospital of North Norway: Collection method of the submission from Department of Medical Genetics,University Hospital of North Norway:
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
2 9 1 15 15 0 5 21

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
Department of Medical Genetics,University Hospital of North Norway pathogenic likely pathogenic uncertain significance likely benign benign
likely pathogenic 3 0 3 0 0
uncertain significance 0 2 0 4 3
likely benign 0 0 9 0 10
benign 0 0 2 2 1

Submitter to submitter summary #

Total submitters: 44
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
Invitae 0 8 0 11 4 0 0 15
Ambry Genetics 0 9 0 8 4 0 1 13
Sharing Clinical Reports Project (SCRP) 0 5 0 7 3 0 1 11
GeneDx 0 10 0 7 3 0 0 10
Color 0 13 0 6 4 0 0 10
Integrated Genetics/Laboratory Corporation of America 0 10 0 7 2 0 0 9
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 4 0 8 1 0 0 9
Breast Cancer Information Core (BIC) (BRCA1) 0 2 0 0 5 0 3 8
Counsyl 0 7 0 5 1 0 0 6
Breast Cancer Information Core (BIC) (BRCA2) 0 4 0 0 6 0 0 6
Department of Pathology and Laboratory Medicine,Sinai Health System 0 8 0 4 2 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 5 1 0 0 6
PreventionGenetics 0 4 0 3 2 0 0 5
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 4 1 0 0 5
Michigan Medical Genetics Laboratories,University of Michigan 0 3 0 3 2 0 0 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 4 1 0 0 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 1 2 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 2 0 2 2 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 3 1 0 0 4
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 2 0 3 0 0 0 3
Department of Medical Genetics,Oslo University Hospital 0 2 0 1 0 0 2 3
OMIM 0 0 0 1 1 0 0 2
Baylor Miraca Genetics Laboratories, 0 0 0 2 0 0 0 2
Mendelics 0 1 0 1 1 0 0 2
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 4 0 2 0 0 0 2
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 0 1 0 1 2
Fulgent Genetics 0 2 0 2 0 0 0 2
Illumina Clinical Services Laboratory,Illumina 0 2 0 2 0 0 0 2
Pathway Genomics 0 2 0 2 0 0 0 2
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 2 0 0 0 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 2 0 0 0 2
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 2 0 2 0 0 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 3 0 0 1 0 1 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 0 1 0 0 1
GeneReviews 0 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 5 0 1 0 0 0 1
Genologica Medica 0 0 0 1 0 0 0 1
CSER_CC_NCGL; University of Washington Medical Center 0 1 0 0 1 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 0 1 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 1 0 1 0 0 0 1
True Health Diagnostics 0 5 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 21
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.750G>A (p.Val250=) rs143214959
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.3(BRCA1):c.1419C>T (p.Asn473=) rs777228325
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.3(BRCA1):c.548-17G>T rs80358014
NM_007294.3(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107

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