ClinVar Miner

Variants from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research with conflicting interpretations

Location: Canada — Primary collection method: literature only
Minimum review status of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research: Collection method of the submission from Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research:
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
201 208 4 45 53 3 25 118

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
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 15 12 1 1 3
likely pathogenic 8 0 5 3 2 0
uncertain significance 3 2 3 30 17 0
likely benign 0 0 16 0 13 0
benign 0 0 6 9 1 0

Submitter to submitter summary #

Total submitters: 27
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
GeneDx 0 112 0 13 29 0 7 49
PreventionGenetics, PreventionGenetics 0 28 0 18 12 0 5 35
Invitae 0 49 0 12 9 0 5 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 42 0 7 11 0 4 22
Integrated Genetics/Laboratory Corporation of America 0 21 0 3 16 0 2 21
Quest Diagnostics Nichols Institute San Juan Capistrano 0 78 0 5 9 0 1 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 19 0 3 9 0 2 14
Department of Pathology and Laboratory Medicine,Sinai Health System 0 27 0 0 5 0 9 14
Mayo Clinic Laboratories, Mayo Clinic 0 10 0 6 5 0 2 13
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 4 1 5 0 2 12
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 26 0 2 8 0 1 11
Genetic Services Laboratory, University of Chicago 0 3 0 2 7 0 1 10
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 17 0 2 5 0 3 10
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 3 0 2 3 0 3 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 7 0 3 2 0 1 6
Illumina Clinical Services Laboratory,Illumina 0 5 0 6 0 0 0 6
International Pleuropulmonary Blastoma Registry,Children's Hospitals and Clinics of Minnesota 0 75 0 4 0 0 1 5
Fulgent Genetics,Fulgent Genetics 0 11 0 2 1 0 1 4
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 0 0 1 2 0 1 4
OMIM 0 2 0 0 0 3 0 3
GeneKor MSA 0 12 0 1 1 0 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 1 1 0 1 3
Department of Pathology and Molecular Medicine,Queen's University 0 2 0 1 1 0 0 2
Mendelics 0 1 0 0 1 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 526 0 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 19 0 0 0 0 1 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 118
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.314T>G (p.Leu105Ter) rs80358561
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6938-2A>G rs81002863
NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu) rs80359048
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3225T>C (p.Ser1075=) rs779228375
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.658_659del rs80359604
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.4(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_007294.3(BRCA1):c.-86C>T rs143160357
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs) rs80357797
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.212+3A>G rs80358083
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.4(BRCA1):c.4399C>T (p.Gln1467Ter) rs397509171
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4986+6T>C rs80358086
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs) rs80357608
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys) rs80356942
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_030621.4(DICER1):c.1174C>T (p.Arg392Ter) rs1131691211
NM_030621.4(DICER1):c.1377-4T>G rs192490028
NM_030621.4(DICER1):c.1907+105C>T rs2275182
NM_030621.4(DICER1):c.2379T>G (p.Tyr793Ter) rs1595382041
NM_030621.4(DICER1):c.2642T>C (p.Leu881Pro) rs1595380007
NM_030621.4(DICER1):c.2997T>G (p.Leu999=) rs12018992
NM_030621.4(DICER1):c.3665dup (p.Leu1222fs) rs1595365532
NM_030621.4(DICER1):c.3675C>A (p.Tyr1225Ter) rs184830847
NM_030621.4(DICER1):c.4014G>A (p.Ala1338=) rs143454689
NM_030621.4(DICER1):c.4050+1G>A rs875989783
NM_030621.4(DICER1):c.4199A>G (p.Asp1400Gly) rs139536688
NM_030621.4(DICER1):c.4206+6_4206+7dup rs1555368535
NM_030621.4(DICER1):c.4442G>A (p.Trp1481Ter) rs1595341418
NM_030621.4(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_030621.4(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_030621.4(DICER1):c.5138A>T (p.Asp1713Val) rs1595331224
NM_030621.4(DICER1):c.5145C>T (p.Leu1715=) rs139500905
NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_030621.4(DICER1):c.735-1_741delinsA rs886037731
NM_030621.4(DICER1):c.884C>G (p.Ser295Cys) rs548231008
NM_177438.2(DICER1):c.1124C>G (p.Pro375Arg) rs148758903
NM_177438.2(DICER1):c.1329_1344del (p.Cys443fs) rs1595438051
NM_177438.2(DICER1):c.184G>A (p.Val62Ile) rs746671039
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177438.2(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.2(DICER1):c.2614G>A (p.Ala872Thr) rs149242330
NM_177438.2(DICER1):c.2987+1G>A rs1555370248
NM_177438.2(DICER1):c.3328A>G (p.Ile1110Val) rs1566769439
NM_177438.2(DICER1):c.4616C>T (p.Thr1539Met) rs747901058
NM_177438.2(DICER1):c.4740G>T (p.Gln1580His) rs369465519
NM_177438.2(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.2(DICER1):c.485G>A (p.Gly162Asp) rs142815547
NM_177438.2(DICER1):c.4888C>T (p.Arg1630Cys) rs549532374
NM_177438.2(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.2(DICER1):c.5126A>G (p.Asp1709Gly) rs1555366979
NM_177438.2(DICER1):c.5330T>A (p.Leu1777His) rs780545199
NM_177438.2(DICER1):c.5365-1G>A rs1595315343
NM_177438.2(DICER1):c.5425G>A (p.Gly1809Arg) rs1595314951
NM_177438.2(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.2(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177438.2(DICER1):c.904-1G>C rs1566803555
NM_177438.3(DICER1):c.2040+54dup
NM_177438.3(DICER1):c.4254GGA[2] (p.Glu1420del) rs544960260
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr)

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