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 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
3 8 0 15 15 0 8 24

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 1 4 0 4 2
likely benign 0 0 9 0 10
benign 0 0 2 2 0

Submitter to submitter summary #

Total submitters: 28
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
Sharing Clinical Reports Project (SCRP) 0 5 0 7 3 0 1 11
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 3 0 9 2 0 0 11
BRCAlab, Lund University 0 5 0 7 2 0 1 10
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 1 0 5 1 0 0 6
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
All of Us Research Program, National Institutes of Health 0 5 0 3 0 0 1 4
Mendelics 0 6 0 2 1 0 0 3
Department of Medical Genetics, Oslo University Hospital 0 2 0 1 0 0 2 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 2 0 3 0 0 0 3
OMIM 0 0 0 1 1 0 0 2
Invitae 0 0 0 0 0 0 2 2
Illumina Laboratory Services, Illumina 0 6 0 2 0 0 0 2
Pathway Genomics 0 2 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 1 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 0 1
Genologica Medica 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 3 0 1 0 0 0 1
Myriad Genetics, Inc. 0 0 0 0 0 0 1 1
DASA 0 0 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_007294.4(BRCA1):c.1419C>T (p.Asn473=) rs777228325 0.00004
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000183.3(HADHB):c.255-1G>A rs112842641 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107

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