ClinVar Miner

Variants from Breast Cancer Information Core (BIC) (BRCA1) with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Breast Cancer Information Core (BIC) (BRCA1): Collection method of the submission from Breast Cancer Information Core (BIC) (BRCA1):
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
330 1011 0 52 276 0 77 401

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
Breast Cancer Information Core (BIC) (BRCA1) pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 34 4 1 1
uncertain significance 65 25 0 178 190
benign 0 0 2 18 0

Submitter to submitter summary #

Total submitters: 34
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) 0 771 0 6 177 0 35 218
Sharing Clinical Reports Project (SCRP) 0 361 0 5 140 0 33 178
Counsyl 0 227 0 33 106 0 16 155
Mendelics 0 37 0 6 55 0 8 69
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 611 0 0 0 0 47 47
Illumina Clinical Services Laboratory,Illumina 0 40 0 6 30 0 0 36
Michigan Medical Genetics Laboratories,University of Michigan 0 56 0 1 31 0 1 33
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 58 0 0 26 0 1 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 66 0 0 18 0 3 21
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 30 0 0 17 0 1 18
Pathway Genomics 0 18 0 2 15 0 1 18
Fulgent Genetics,Fulgent Genetics 0 6 0 1 11 0 1 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 23 0 0 9 0 3 12
Department of Medical Genetics, Oslo University Hospital 0 74 0 2 0 0 8 9
Department of Medical Genetics, University Hospital of North Norway 0 2 0 0 5 0 3 8
OMIM 0 29 0 0 0 0 5 5
Quest Diagnostics Nichols Institute San Juan Capistrano 0 70 0 0 0 0 5 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 5 0 0 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 33 0 0 0 0 4 4
Genologica Medica 0 19 0 0 0 0 4 4
Institute of Human Genetics, University of Leipzig Medical Center 0 20 0 0 3 0 1 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 28 0 1 0 0 2 3
King Laboratory,University of Washington 0 7 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA1) 1737 3 0 0 1 0 1 2
Division of Human Genetics,Medical University Innsbruck 0 14 0 0 0 0 1 1
GeneReviews 0 0 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Centro de Genética y Biología Molecular, Universidad de San Martín de Porres 0 0 0 0 0 0 1 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 1 0 0 1
Department of Medical Genetics, National Institute of Health 0 0 0 0 0 0 1 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 2 0 1 0 0 0 1
Cancer Prevention Center, Yonsei Cancer Center,Severance Hospital, Yonsei University College of Medicine 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 0 0 0 1 1
Institute of Genomics,University of Tartu 0 7 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 401
Download table as spreadsheet
HGVS dbSNP
NM_007294.3(BRCA1):c.-19-115T>C rs3765640
NM_007294.3(BRCA1):c.-19-3A>G rs273898669
NM_007294.3(BRCA1):c.134+2del rs273897657
NM_007294.3(BRCA1):c.213-161A>G rs799912
NM_007294.3(BRCA1):c.301+10G>A rs80358001
NM_007294.3(BRCA1):c.301+2dup rs273899694
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.302-3C>G rs80358051
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4097-10G>A rs80358057
NM_007294.3(BRCA1):c.4097-11T>C rs80358072
NM_007294.3(BRCA1):c.4097-141A>C rs799916
NM_007294.3(BRCA1):c.4185+10G>A rs80358104
NM_007294.3(BRCA1):c.4185+10G>C rs80358104
NM_007294.3(BRCA1):c.4185+9C>T rs80358034
NM_007294.3(BRCA1):c.4186-10G>A rs80358172
NM_007294.3(BRCA1):c.4186-19C>T rs80358016
NM_007294.3(BRCA1):c.4357+117G>A rs3737559
NM_007294.3(BRCA1):c.4357+6T>C rs80358143
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.4675+7T>C rs273900739
NM_007294.3(BRCA1):c.4676-16C>G rs80358067
NM_007294.3(BRCA1):c.4676-7C>T rs80358005
NM_007294.3(BRCA1):c.4986+4A>T rs80358087
NM_007294.3(BRCA1):c.4986+5G>A rs397509211
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5075-9A>T rs80358059
NM_007294.3(BRCA1):c.5152+10A>G rs80358114
NM_007294.3(BRCA1):c.5152+5G>A rs80358165
NM_007294.3(BRCA1):c.5152+7A>G rs80358046
NM_007294.3(BRCA1):c.5152+85del rs8176259
NM_007294.3(BRCA1):c.5153-13A>G rs45471406
NM_007294.3(BRCA1):c.5153-1G>C rs80358137
NM_007294.3(BRCA1):c.5153-26A>G rs80358109
NM_007294.3(BRCA1):c.5153-6C>A rs80358129
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5194-18G>T rs80358090
NM_007294.3(BRCA1):c.5277+78G>A rs80358107
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5332+15G>C rs80358148
NM_007294.3(BRCA1):c.5406+53A>T rs273901766
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5406+5G>T rs80358073
NM_007294.3(BRCA1):c.5406+68T>C rs8176307
NM_007294.3(BRCA1):c.5407-21C>T rs273901768
NM_007294.3(BRCA1):c.5467+1G>A rs80358145
NM_007294.3(BRCA1):c.5467+8G>A rs80358062
NM_007294.3(BRCA1):c.5468-10_5468-9del rs273902770
NM_007294.3(BRCA1):c.547+146A>T rs8176140
NM_007294.3(BRCA1):c.547+14del rs273902771
NM_007294.3(BRCA1):c.547+1G>A rs80358030
NM_007294.3(BRCA1):c.593+9A>G rs80358133
NM_007294.3(BRCA1):c.671-12del rs273902781
NM_007294.3(BRCA1):c.671-18_671-16del rs398122354
NM_007294.3(BRCA1):c.80+5G>A rs80358045
NM_007294.3(BRCA1):c.80+7C>T rs80358098
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.3(BRCA1):c.81-12C>G rs80358055
NM_007294.3(BRCA1):c.81-12del rs273902789
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-20C>T rs80358039
NM_007294.3(BRCA1):c.81-65G>C rs80358117
NM_007294.3(BRCA1):c.81-9C>G rs80358127
NM_007294.4(BRCA1):c.*36C>G rs3092995
NM_007294.4(BRCA1):c.-19-32AT[7] rs273898667
NM_007294.4(BRCA1):c.-20+11C>T rs273898672
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1081T>C (p.Ser361Pro) rs80356946
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.122A>G (p.His41Arg) rs80357276
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024
NM_007294.4(BRCA1):c.1250A>G (p.Asn417Ser) rs80357113
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>A (p.Cys44Tyr) rs80357446
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.1418A>G (p.Asn473Ser) rs80357057
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.4(BRCA1):c.1834A>G (p.Arg612Gly) rs80357245
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.1866G>T (p.Ala622=) rs1800064
NM_007294.4(BRCA1):c.1893A>G (p.Leu631=) rs80356834
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.190T>G (p.Cys64Gly) rs80357064
NM_007294.4(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.1924G>C (p.Asp642His) rs80357344
NM_007294.4(BRCA1):c.1927A>G (p.Ser643Gly) rs80357105
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.4(BRCA1):c.19C>T (p.Arg7Cys) rs80356994
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680
NM_007294.4(BRCA1):c.2079C>T (p.Asp693=) rs80356835
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2103G>A (p.Lys701=) rs273898677
NM_007294.4(BRCA1):c.2105T>G (p.Leu702Ter) rs80357298
NM_007294.4(BRCA1):c.2109A>G (p.Thr703=) rs4986844
NM_007294.4(BRCA1):c.2130T>G (p.Thr710=) rs273898678
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2175C>T (p.Ser725=) rs273898680
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912
NM_007294.4(BRCA1):c.2188_2201del (p.Glu730fs) rs273898681
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.231G>T (p.Thr77=) rs80356847
NM_007294.4(BRCA1):c.2347A>G (p.Ile783Val) rs80356948
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144
NM_007294.4(BRCA1):c.2428A>T (p.Asn810Tyr) rs28897682
NM_007294.4(BRCA1):c.243del (p.Gln81fs) rs273899684
NM_007294.4(BRCA1):c.2447A>G (p.His816Arg) rs80357108
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2473G>T (p.Asp825Tyr) rs80357328
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.4(BRCA1):c.2507_2508del (p.Glu836fs) rs273899686
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.4(BRCA1):c.2568T>C (p.Tyr856=) rs80356832
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs) rs80357596
NM_007294.4(BRCA1):c.2706_2707dup (p.Cys903fs) rs80357717
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.2758G>A (p.Val920Ile) rs80357361
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955
NM_007294.4(BRCA1):c.2915del (p.Gly972fs) rs80357573
NM_007294.4(BRCA1):c.2931A>G (p.Pro977=) rs273899691
NM_007294.4(BRCA1):c.2935C>T (p.Arg979Cys) rs80356970
NM_007294.4(BRCA1):c.2995C>T (p.Leu999=) rs80356848
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.4(BRCA1):c.2T>C (p.Met1Thr) rs80357111
NM_007294.4(BRCA1):c.301+7G>A rs80358113
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3055A>G (p.Ile1019Val) rs80357311
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271
NM_007294.4(BRCA1):c.3143G>T (p.Gly1048Val) rs80356899
NM_007294.4(BRCA1):c.3144T>C (p.Gly1048=) rs80356837
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.3327A>G (p.Lys1109=) rs41293449
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3341AAG[1] (p.Glu1115del) rs80358336
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3351dup (p.Gln1118fs) rs80357785
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3426A>G (p.Ala1142=) rs80356843
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.3463G>C (p.Asp1155His) rs80357484
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3603T>G (p.Gly1201=) rs80356830
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.370A>G (p.Ile124Val) rs80357448
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.4(BRCA1):c.3714_3747del (p.Gln1240fs) rs886038023
NM_007294.4(BRCA1):c.3724A>G (p.Thr1242Ala) rs80357037
NM_007294.4(BRCA1):c.372C>A (p.Ile124=) rs273900715
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3759T>G (p.Ser1253=) rs80356852
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.3835G>A (p.Ala1279Thr) rs80357036
NM_007294.4(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) rs80357047
NM_007294.4(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs) rs80357678
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.4(BRCA1):c.397C>T (p.Arg133Cys) rs80357457
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357
NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=) rs80356828
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.4(BRCA1):c.4050_4051insG (p.Leu1351fs) rs483353092
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4074G>A (p.Glu1358=) rs80356846
NM_007294.4(BRCA1):c.4081A>C (p.Met1361Leu) rs80357218
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg) rs80356972
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.4(BRCA1):c.4213A>G (p.Ile1405Val) rs80357353
NM_007294.4(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
NM_007294.4(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.4(BRCA1):c.42C>A (p.Val14=) rs80356827
NM_007294.4(BRCA1):c.4314C>G (p.Ala1438=) rs80356856
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840
NM_007294.4(BRCA1):c.4358-10C>T rs80358111
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075
NM_007294.4(BRCA1):c.4484+14A>G rs80358022
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674
NM_007294.4(BRCA1):c.4585A>G (p.Ile1529Val) rs80357095
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.4(BRCA1):c.4636G>T (p.Asp1546Tyr) rs28897691
NM_007294.4(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.4(BRCA1):c.4655_4658del (p.Tyr1552fs) rs80357561
NM_007294.4(BRCA1):c.4657T>A (p.Leu1553Met) rs80357431
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.4(BRCA1):c.4750G>T (p.Ala1584Ser) rs80357070
NM_007294.4(BRCA1):c.4765C>T (p.Arg1589Cys) rs80357002
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.4(BRCA1):c.4813T>C (p.Leu1605=) rs80356833
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4833C>T (p.Ala1611=) rs80356842
NM_007294.4(BRCA1):c.4837A>T (p.Ser1613Cys) rs1799966
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.4893T>C (p.Ser1631=) rs80356850
NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) rs200432771
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4987-20A>G rs80358035
NM_007294.4(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro) rs80357314
NM_007294.4(BRCA1):c.4993G>A (p.Val1665Met) rs80357169
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.4(BRCA1):c.5053A>G (p.Thr1685Ala) rs80356890
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5066T>G (p.Met1689Arg) rs80357061
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+1G>T rs80358053
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5075-1G>A rs1800747
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264
NM_007294.4(BRCA1):c.5113C>T (p.Leu1705=) rs80356858
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5150del (p.Phe1717fs) rs80357720
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.5256A>C (p.Ala1752=) rs80356844
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5297T>G (p.Ile1766Ser) rs80357463
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.4(BRCA1):c.5317A>T (p.Thr1773Ser) rs80357324
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5333-8C>T rs80358084
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) rs80357065
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.5365G>T (p.Ala1789Ser) rs80357078
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5406+33A>T rs80358092
NM_007294.4(BRCA1):c.5406+8T>C rs55946644
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286
NM_007294.4(BRCA1):c.5464_5465insT (p.His1822fs) rs273902769
NM_007294.4(BRCA1):c.5468-10C>A rs8176316
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5513T>A (p.Val1838Glu) rs80357107
NM_007294.4(BRCA1):c.5532C>T (p.Leu1844=) rs80356829
NM_007294.4(BRCA1):c.5536C>T (p.Gln1846Ter) rs80356873
NM_007294.4(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.4(BRCA1):c.5556C>G (p.Thr1852=) rs80356841
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.567T>C (p.Asp189=) rs80356845
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.4(BRCA1):c.594-2A>C rs80358033
NM_007294.4(BRCA1):c.61del (p.Ile21fs) rs273902778
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.661G>T (p.Ala221Ser) rs80357088
NM_007294.4(BRCA1):c.670+8C>T rs80358050
NM_007294.4(BRCA1):c.685del (p.Ser229fs) rs80357824
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.716A>G (p.His239Arg) rs80357396
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.4(BRCA1):c.795T>C (p.Ser265=) rs201441987
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.81-6T>C rs80358179
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436
NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly) rs80357199
NM_007294.4(BRCA1):c.891G>A (p.Met297Ile) rs80357103
NM_007294.4(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.4(BRCA1):c.964G>C (p.Ala322Pro) rs80357252
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836
NM_007297.4(BRCA1):c.-8+8294A>C rs80358064
NM_007297.4(BRCA1):c.407-58del rs8176144
NM_007299.4(BRCA1):c.1048+17A>G rs80358180
NM_007299.4(BRCA1):c.212+21G>A rs80358147
NM_007299.4(BRCA1):c.548-17G>T rs80358014
NM_007299.4(BRCA1):c.593+3G>A rs80358013
NM_007299.4(BRCA1):c.81-13C>A rs56328013
Single allele

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