ClinVar Miner

Variants from BRCAlab, Lund University with conflicting interpretations

Location: Sweden  Primary collection method: clinical testing
Minimum review status of the submission from BRCAlab, Lund University: Collection method of the submission from BRCAlab, Lund University:
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
236 485 3 171 153 0 37 271

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
BRCAlab, Lund University pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 3 52 17 0 0
likely pathogenic 21 0 13 0 0
uncertain significance 3 3 0 31 11
likely benign 1 0 42 0 28
benign 1 0 74 70 0

Submitter to submitter summary #

Total submitters: 59
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
Counsyl 0 182 0 60 18 0 1 79
Breast Cancer Information Core (BIC) (BRCA2) 0 158 0 1 65 0 10 76
Breast Cancer Information Core (BIC) (BRCA1) 0 151 0 4 45 0 19 68
Sharing Clinical Reports Project (SCRP) 0 262 0 34 21 0 8 63
Illumina Laboratory Services, Illumina 0 20 0 37 15 0 0 52
Mendelics 0 43 0 33 4 0 0 37
Myriad Genetics, Inc. 0 46 0 9 10 0 0 19
All of Us Research Program, National Institutes of Health 0 96 0 9 8 0 0 17
Michigan Medical Genetics Laboratories, University of Michigan 0 77 0 10 5 0 0 15
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 333 0 11 0 0 2 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 43 0 13 0 0 0 13
Baylor Genetics 0 143 0 11 0 0 1 12
Department of Medical Genetics, University Hospital of North Norway 0 5 0 7 2 0 1 10
Department of Medical and Surgical Sciences, University of Bologna 0 9 0 4 6 0 0 10
Pathway Genomics 0 21 0 8 0 0 1 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 85 0 7 0 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 0 66 0 4 3 0 0 7
Fulgent Genetics, Fulgent Genetics 0 8 0 5 1 0 0 6
OMIM 0 28 3 0 1 0 2 6
Ambry Genetics 0 14 0 4 0 0 1 5
Department of Medical Genetics, Oslo University Hospital 0 89 0 5 0 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 84 0 5 0 0 0 5
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 70 0 2 2 0 0 4
Genome-Nilou Lab 0 7 0 3 0 0 1 4
Labcorp Genetics (formerly Invitae), Labcorp 0 11 0 4 0 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 3 0 0 4
deCODE genetics, Amgen 0 1 0 3 0 0 1 4
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 2 0 3 0 0 0 3
Dasa 0 41 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 30 0 3 0 0 0 3
Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse 0 0 0 1 1 0 1 3
MGZ Medical Genetics Center 0 33 0 3 0 0 0 3
3billion 0 4 0 2 0 0 0 2
Color Diagnostics, LLC DBA Color Health 0 11 0 1 0 0 1 2
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 24 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 8 0 1 1 0 0 2
Institute of Human Genetics, Medical University Innsbruck 0 17 0 2 0 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 70 0 1 1 0 0 2
King Laboratory, University of Washington 0 4 0 1 0 0 1 2
Molecular Pathology, Peter Maccallum Cancer Centre 0 44 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 15 0 2 0 0 0 2
Cancer Prevention Center, Yonsei Cancer Center, Severance Hospital, Yonsei University College of Medicine 0 0 0 1 0 0 0 1
Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 5 0 1 0 0 0 1
GeneKor MSA 0 2 0 1 0 0 0 1
Genesis Genomics 0 35 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 43 0 1 0 0 0 1
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 11 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 6 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Medical Genetics UMG, Mater Domini University Hospital/ Magna Graecia University of Catanzaro 0 0 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 5 0 1 0 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 9 0 0 1 0 0 1
Molecular Oncology, Hospital Universitario Central de Asturias (HUCA) 0 27 0 1 0 0 0 1
School of Basic Medicine, Fourth Military Medical University 0 0 0 0 0 0 1 1
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 5 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 6 0 1 0 0 0 1
Variantyx, Inc. 0 21 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 271
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.00983
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00895
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00474
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00431
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00172
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000059.4(BRCA2):c.631+43G>T rs276174869 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000059.4(BRCA2):c.632-69T>C rs61948377 0.00125
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00092
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00075
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00036
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00025
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00018
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00018
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00018
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00016
NM_007294.4(BRCA1):c.81-65G>C rs80358117 0.00016
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00016
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00015
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833 0.00011
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342 0.00011
NM_000059.4(BRCA2):c.8633-16C>G rs81002818 0.00010
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673 0.00009
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00007
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00007
NM_000059.4(BRCA2):c.8953+16C>T rs81002892 0.00007
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00007
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00007
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00007
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00007
NM_007294.4(BRCA1):c.5467+8G>A rs80358062 0.00007
NM_007294.4(BRCA1):c.593+3G>A rs80358013 0.00007
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545 0.00004
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_058216.3(RAD51C):c.774del (p.Thr259fs) rs754367349 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_007294.4(BRCA1):c.116G>A (p.Cys39Tyr) rs80357498 0.00003
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00003
NM_007294.4(BRCA1):c.2123C>A (p.Ser708Tyr) rs80357182 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.612G>C (p.Leu204Phe) rs80357394 0.00003
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000059.4(BRCA2):c.167A>C (p.Asn56Thr) rs80358454 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) rs80358645 0.00002
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val) rs80358737 0.00002
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.6331A>G (p.Lys2111Glu) rs773211804 0.00002
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887 0.00002
NM_000059.4(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038 0.00002
NM_000059.4(BRCA2):c.8515T>C (p.Tyr2839His) rs758884639 0.00002
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264 0.00002
NM_007294.4(BRCA1):c.5332+4A>G rs80358166 0.00002
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.5319+2T>C rs1555105842 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 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.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.517-2A>G rs81002858 0.00001
NM_000059.4(BRCA2):c.5808G>A (p.Met1936Ile) rs759138390 0.00001
NM_000059.4(BRCA2):c.5870T>C (p.Ile1957Thr) rs587782320 0.00001
NM_000059.4(BRCA2):c.6842-19A>G rs81002865 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.8014A>G (p.Ile2672Val) rs80359037 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe) rs786201992 0.00001
NM_000059.4(BRCA2):c.856T>C (p.Ser286Pro) rs80359111 0.00001
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp) rs80359142 0.00001
NM_000059.4(BRCA2):c.909T>G (p.Ser303=) rs757430441 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser) rs80359176 0.00001
NM_000059.4(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313 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_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_007194.4(CHEK2):c.1489del (p.Asp497fs) rs774175654 0.00001
NM_007294.4(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902 0.00001
NM_007294.4(BRCA1):c.1978G>A (p.Val660Ile) rs876660889 0.00001
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206 0.00001
NM_007294.4(BRCA1):c.3416G>T (p.Ser1139Ile) rs80357228 0.00001
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn) rs1057519496 0.00001
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg) rs80357042 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4730C>A (p.Ser1577Tyr) rs273901741 0.00001
NM_007294.4(BRCA1):c.5054C>T (p.Thr1685Ile) rs80357043 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929 0.00001
NM_007294.4(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286 0.00001
NM_007294.4(BRCA1):c.5467+1G>A rs80358145 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val) rs80358441
NM_000059.4(BRCA2):c.162CAA[1] (p.Asn56del) rs11571587
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.4037_4038del (p.Thr1346fs) rs80359421
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4258del (p.Asp1420fs) rs80359436
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.476-9dup rs276174849
NM_000059.4(BRCA2):c.5378A>G (p.Asn1793Ser) rs80358759
NM_000059.4(BRCA2):c.5851_5854del (p.Ser1951fs) rs80359543
NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=) rs748854546
NM_000059.4(BRCA2):c.631+1G>A rs81002897
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu) rs1135401833
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.682-12_682-11del rs276174879
NM_000059.4(BRCA2):c.6901G>T (p.Glu2301Ter) rs80358915
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8165C>G (p.Thr2722Arg) rs80359062
NM_000059.4(BRCA2):c.8323dup (p.Met2775fs) rs276174904
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter) rs137886232
NM_004360.5(CDH1):c.2195G>A (p.Arg732Gln) rs1060501244
NM_004360.5(CDH1):c.832+1G>A rs878854697
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly) rs80357164
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1222A>G (p.Lys408Glu) rs80357253
NM_007294.4(BRCA1):c.130T>A (p.Cys44Ser) rs80357327
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.134+2T>G rs80358131
NM_007294.4(BRCA1):c.135-8dup rs397507186
NM_007294.4(BRCA1):c.1895G>A (p.Ser632Asn) rs80356983
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg) rs80357064
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.3228_3229del (p.Gly1077fs) rs80357635
NM_007294.4(BRCA1):c.3342_3345del (p.Glu1114_Glu1115insTer) rs397509058
NM_007294.4(BRCA1):c.3367G>T (p.Asp1123Tyr) rs80356867
NM_007294.4(BRCA1):c.3377C>T (p.Pro1126Leu) rs80356887
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
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.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4185+11TG[7] rs273900723
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.442-7T>A rs886040909
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.4986+3G>C rs80358023
NM_007294.4(BRCA1):c.4986+6T>G rs80358086
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5143A>C (p.Ser1715Arg) rs80357222
NM_007294.4(BRCA1):c.5153-1G>C rs80358137
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5309G>T (p.Gly1770Val) rs863224765
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_007294.4(BRCA1):c.5468-2A>G rs398122699
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.671-1G>A rs80358020
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln) rs372047427
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_058216.3(RAD51C):c.230del (p.Gly77fs) rs1057519355
NM_058216.3(RAD51C):c.93del (p.Phe32fs) rs730881942
Single allele

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