ClinVar Miner

Variants from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne with conflicting interpretations

Location: Germany — Primary collection method: research
Minimum review status of the submission from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne: Collection method of the submission from German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne:
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
158 129 7 89 0 6 55 132

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
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne pathogenic likely pathogenic uncertain significance likely benign drug response risk factor
pathogenic 6 21 3 0 0 5
likely pathogenic 68 1 51 1 1 0

Submitter to submitter summary #

Total submitters: 51
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 87 0 33 0 1 36 70
Ambry Genetics 0 120 0 33 0 0 18 51
GeneDx 0 89 0 30 0 0 2 32
OMIM 0 16 0 19 0 4 0 23
Counsyl 0 41 0 12 0 0 2 14
Database of Curated Mutations (DoCM) 0 77 0 12 0 0 0 12
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 10 0 7 0 0 4 11
Color 0 64 0 5 0 0 5 10
GeneReviews 0 1 6 3 0 0 0 9
Mendelics 0 21 0 8 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 28 0 6 0 0 1 7
Pathway Genomics 0 11 0 6 0 0 0 6
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 13 0 5 0 0 0 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 50 0 5 0 0 0 5
Integrated Genetics/Laboratory Corporation of America 0 49 0 4 0 0 0 4
Fulgent Genetics 0 13 0 4 0 0 0 4
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 3 3
Genomics and Pathology Services,Washington University in St.Louis 0 2 0 2 0 0 1 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 1 3
University of Washington Department of Laboratory Medicine,University of Washington 0 7 0 2 0 0 1 3
Breast Cancer Information Core (BIC) (BRCA1) 0 41 0 1 0 0 1 2
Illumina Clinical Services Laboratory,Illumina 0 3 0 2 0 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 1 0 0 1 2
GeneKor MSA 0 34 0 2 0 0 0 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 64 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 2 0 0 0 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 1 0 0 1 2
ClinGen PTEN Variant Curation Expert Panel 0 0 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 11 0 1 0 0 0 1
PreventionGenetics 0 9 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 44 0 1 0 0 0 1
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 12 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 11 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 16 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 2 0 1 0 0 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 0 1 0 0 0 1
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 0 0 0 1 0 0 0 1
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 0 0 0 1 0 0 0 1
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 3 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 23 0 1 0 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 1 0 0 0 1
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 132
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000314.4(PTEN):c.406T>C (p.Cys136Arg) rs786201044
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.6(PTEN):c.209+4_209+7delAGTA rs398123318
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.70G>C (p.Asp24His) rs786201995
NM_000314.7(PTEN):c.1027-1G>A rs1057517809
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.403A>G (p.Ile135Val) rs587782360
NM_000314.7(PTEN):c.509G>T (p.Ser170Ile) rs876660507
NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.375+5G>A rs1555526466
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_000546.5(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.5(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.475G>C (p.Ala159Pro) rs730882000
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.560-1G>C rs1202793339
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.673-2A>G rs1555525585
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.740A>T (p.Asn247Ile) rs786201762
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.5(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.920-1G>A rs587781702
NM_000546.5(TP53):c.920-1G>T rs587781702
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.993+1G>A rs11575997
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) rs193920817
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002878.3(RAD51D):c.576+1G>A rs781161543
NM_005431.1(XRCC2):c.96delT (p.Phe32Leufs) rs730882048
NM_005591.3(MRE11):c.1222dupA (p.Thr408Asnfs) rs774440500
NM_005591.3(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007294.3(BRCA1):c.212G>C (p.Arg71Thr) rs80356913
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5333-1G>T rs80358126
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_020937.3(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) rs515726117
NM_032043.2(BRIP1):c.1741C>T (p.Arg581Ter) rs780020495
NM_032043.2(BRIP1):c.2258-1G>A rs1064793887
NM_058216.2(RAD51C):c.706-2A>G rs587780259

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