ClinVar Miner

Variants from Department of Medical and Surgical Sciences, University of Bologna with conflicting interpretations

Location: Italy  Primary collection method: clinical testing
Minimum review status of the submission from Department of Medical and Surgical Sciences, University of Bologna: Collection method of the submission from Department of Medical and Surgical Sciences, University of Bologna:
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
61 17 0 27 85 0 12 100

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 and Surgical Sciences, University of Bologna pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 4 0 0
likely pathogenic 3 0 2 0 1
uncertain significance 2 1 0 3 1
likely benign 1 1 47 0 7
benign 0 1 34 14 0

Submitter to submitter summary #

Total submitters: 41
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
Breast Cancer Information Core (BIC) (BRCA2) 0 9 0 1 32 0 2 35
Counsyl 0 11 0 5 27 0 1 33
Sharing Clinical Reports Project (SCRP) 0 23 0 5 20 0 4 29
All of Us Research Program, National Institutes of Health 0 6 0 2 19 0 0 21
Breast Cancer Information Core (BIC) (BRCA1) 0 3 0 1 15 0 3 19
Mendelics 0 6 0 6 8 0 1 15
BRCAlab, Lund University 0 9 0 4 6 0 0 10
Illumina Laboratory Services, Illumina 0 0 0 6 4 0 0 10
Baylor Genetics 0 2 0 1 4 0 0 5
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 0 4 0 0 4
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 2 1 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 2 0 0 3
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 0 0 0 3 0 0 3
MGZ Medical Genetics Center 0 0 0 3 0 0 0 3
Michigan Medical Genetics Laboratories, University of Michigan 0 2 0 2 1 0 0 3
Myriad Genetics, Inc. 0 3 0 2 0 0 1 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 1 0 0 1 2
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 1 0 1 0 0 1 2
Dasa 0 2 0 1 1 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 0 2 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 2 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 1 0 0 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 1 2
3billion 0 0 0 1 0 0 0 1
Department of Medical Genetics, University Hospital of North Norway 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 2 0 1 0 0 0 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 0 1 0 0 1
Institute of Human Genetics, Medical University Innsbruck 0 0 0 1 0 0 0 1
Intergen Genetics and Rare Diseases Diagnosis Center 0 0 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 0 0 0 1 1
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 1 0 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 9 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 1 0 0 1
OMIM 0 0 0 1 0 0 0 1
Pathway Genomics 0 1 0 0 1 0 0 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215 0.00004
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00003
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00003
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.446A>C (p.Glu149Ala) rs397507233 0.00003
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) rs397507603 0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_007294.4(BRCA1):c.4054G>A (p.Glu1352Lys) rs80357202 0.00002
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422 0.00001
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) rs587782713 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467 0.00001
NM_000059.4(BRCA2):c.2492T>C (p.Val831Ala) rs779520270 0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298 0.00001
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599 0.00001
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655 0.00001
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543 0.00001
NM_000059.4(BRCA2):c.5390C>G (p.Ala1797Gly) rs80358760 0.00001
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007 0.00001
NM_000059.4(BRCA2):c.5677T>G (p.Cys1893Gly) rs786203261 0.00001
NM_000059.4(BRCA2):c.5702A>T (p.Glu1901Val) rs773600818 0.00001
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr) rs587782320 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His) rs80359246 0.00001
NM_001134382.3(IQSEC1):c.962G>A (p.Arg321Gln) rs758170522 0.00001
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555 0.00001
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1934C>A (p.Ser645Tyr) rs80357129 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.3220A>G (p.Arg1074Gly) rs80357263 0.00001
NM_007294.4(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) rs273901741 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.5153-26A>G rs80358109 0.00001
NM_007294.4(BRCA1):c.535T>C (p.Tyr179His) rs587781761 0.00001
NM_007294.4(BRCA1):c.556T>G (p.Ser186Ala) rs397509298 0.00001
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys) rs80358410
NM_000059.4(BRCA2):c.1146A>T (p.Lys382Asn) rs431825280
NM_000059.4(BRCA2):c.1462A>C (p.Ile488Leu) rs864622352
NM_000059.4(BRCA2):c.2045T>C (p.Ile682Thr) rs398122739
NM_000059.4(BRCA2):c.2273G>A (p.Ser758Asn) rs1593896511
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.3071T>A (p.Ile1024Asn) rs764921920
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del) rs397507319
NM_000059.4(BRCA2):c.4391C>T (p.Ser1464Phe) rs587776464
NM_000059.4(BRCA2):c.4603G>T (p.Ala1535Ser) rs2072508845
NM_000059.4(BRCA2):c.572A>T (p.Asp191Val) rs397507798
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn) rs80358885
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu) rs1135401833
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr) rs431825366
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9006A>T (p.Glu3002Asp) rs80359153
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9227G>T (p.Gly3076Val) rs80359187
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.4(BRCA2):c.992A>T (p.Lys331Ile) rs80359253
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys) rs80357005
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del) rs80358337
NM_007294.4(BRCA1):c.3424G>C (p.Ala1142Pro) rs80357101
NM_007294.4(BRCA1):c.3613G>A (p.Gly1205Arg) rs80357294
NM_007294.4(BRCA1):c.457A>G (p.Ser153Gly) rs28897674
NM_007294.4(BRCA1):c.4895T>G (p.Val1632Gly) rs1397965282
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5057A>G (p.His1686Arg) rs730882166
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.889A>C (p.Met297Leu) rs80357196

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