ClinVar Miner

Variants from A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center with conflicting interpretations

Location: Brazil — Primary collection method: research
Minimum review status of the submission from A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center: Collection method of the submission from A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center:
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
3 58 3 8 15 2 7 31

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
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 2 8 4 0 0 2
uncertain significance 3 2 1 15 13 0

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
Color 0 30 0 1 15 0 1 17
Ambry Genetics 0 42 0 0 14 0 2 16
Invitae 0 39 0 1 14 0 1 16
Sharing Clinical Reports Project (SCRP) 0 20 0 0 13 0 1 14
Counsyl 0 23 0 2 9 0 2 13
GeneDx 0 36 0 0 10 0 1 11
Integrated Genetics/Laboratory Corporation of America 0 27 0 0 10 0 1 11
Department of Pathology and Laboratory Medicine,Sinai Health System 0 23 0 1 8 0 1 10
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 13 0 2 5 0 1 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 5 0 0 7 0 0 7
PreventionGenetics 0 6 0 0 6 0 0 6
Michigan Medical Genetics Laboratories,University of Michigan 0 9 0 0 6 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 7 0 0 6 0 0 6
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 32 0 0 5 0 1 6
Illumina Clinical Services Laboratory,Illumina 0 3 0 0 6 0 0 6
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 11 0 0 6 0 0 6
Baylor Miraca Genetics Laboratories, 0 7 0 0 5 0 0 5
Biesecker Lab/Human Development Section,National Institutes of Health 0 1 1 0 4 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 0 5 0 0 5
True Health Diagnostics 0 3 0 0 5 0 0 5
Pathway Genomics 0 4 0 0 4 0 0 4
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 4 0 0 2 0 1 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 4 0 0 3 0 0 3
Vantari Genetics 0 0 0 0 3 0 0 3
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 13 0 0 3 0 0 3
OMIM 0 5 0 0 0 2 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 0 2 0 0 2
Mendelics 0 28 0 0 1 0 1 2
GeneReviews 0 0 2 0 0 0 0 2
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 6 0 1 0 0 1 2
Fulgent Genetics 0 10 0 0 2 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 25 0 0 1 0 1 2
GeneKor MSA 0 11 0 1 0 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 0 5 0 0 1 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 22 0 0 0 0 1 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 3 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 26 0 0 0 0 1 1
Department of Pathology and Molecular Medicine,Queen's University 0 4 0 0 1 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 20 0 0 1 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 31
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6550C>T (p.Gln2184Ter) rs80358887
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1932G>C (p.Arg644Ser) rs34938432
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000251.2(MSH2):c.528_529delTG (p.Cys176Terfs) rs587779164
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.3(BRCA1):c.441+2T>A rs397509173
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233

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