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:

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 6 0 15 17 0 8 26

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 6 3
likely benign 0 0 9 0 10
benign 0 0 2 2 0

Submitter to submitter summary #

Total submitters: 33
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
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 3 0 9 2 0 0 11
Sharing Clinical Reports Project (SCRP) 0 5 0 7 3 0 1 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
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
Counsyl 0 7 0 5 1 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 4 1 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
Dasa 0 0 0 2 1 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 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
Mendelics 0 6 0 2 1 0 0 3
Baylor Genetics 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
Genesis Genomics 0 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 6 0 2 0 0 0 2
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 2 0 0 2
OMIM 0 0 0 1 1 0 0 2
Pathway Genomics 0 2 0 2 0 0 0 2
All of Us Research Program, National Institutes of Health 0 3 0 1 0 0 0 1
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 2 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 3 0 1 0 0 0 1
Genologica Medica 0 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 1 0 0 0 1
Myriad Genetics, Inc. 0 0 0 0 0 0 1 1
Variantyx, Inc. 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.00983
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_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00007
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 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.750G>A (p.Val250=) rs143214959 0.00003
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.5125G>A (p.Gly1709Arg) rs886038197
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107

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