ClinVar Miner

Variants from University of Washington Department of Laboratory Medicine,University of Washington with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from University of Washington Department of Laboratory Medicine,University of Washington: Collection method of the submission from University of Washington Department of Laboratory Medicine,University of Washington:
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
787 132 3 113 96 13 51 234

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
University of Washington Department of Laboratory Medicine,University of Washington pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 1 43 21 2 0 11
likely pathogenic 20 0 14 0 0 1
uncertain significance 4 10 2 38 12 0
likely benign 2 1 53 0 42 0
benign 0 0 6 8 0 0
risk factor 1 1 1 1 0 0

Submitter to submitter summary #

Total submitters: 63
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
Ambry Genetics 0 156 0 34 49 1 15 99
Invitae 0 163 0 32 49 1 17 99
GeneDx 0 145 0 29 39 0 14 82
Color 0 130 0 26 37 1 10 74
Integrated Genetics/Laboratory Corporation of America 0 78 0 11 29 1 8 49
Counsyl 0 91 0 15 19 1 4 39
Quest Diagnostics Nichols Institute San Juan Capistrano 0 67 0 7 12 1 4 24
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 49 0 9 3 0 10 22
PreventionGenetics 0 30 0 4 12 1 4 21
Mendelics 0 25 0 2 10 1 4 17
OMIM 0 22 0 5 0 11 1 16
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 27 0 10 4 0 1 15
GeneKor MSA 0 27 0 8 4 0 2 14
Fulgent Genetics 0 27 0 5 7 0 1 13
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 23 0 13 0 0 0 13
CSER_CC_NCGL; University of Washington Medical Center 0 14 0 2 7 0 3 12
Department of Pathology and Laboratory Medicine,Sinai Health System 0 33 0 2 5 1 3 11
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 2 0 7 1 0 10
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 33 0 2 7 0 1 10
Genetic Services Laboratory, University of Chicago 0 13 0 3 6 0 0 9
Illumina Clinical Services Laboratory,Illumina 0 17 0 2 4 0 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 7 0 3 3 0 3 9
True Health Diagnostics 0 10 0 1 6 0 2 9
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 17 0 4 3 1 0 8
Center for Human Genetics, Inc 0 5 0 1 2 1 1 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 11 0 3 2 0 0 5
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 0 0 5 0 0 0 5
Breast Cancer Information Core (BIC) (BRCA2) 0 9 0 0 3 0 1 4
Pathway Genomics 0 11 0 1 1 0 2 4
Baylor Miraca Genetics Laboratories, 0 5 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 4 0 0 2 1 0 3
GeneReviews 0 3 1 1 0 1 0 3
PALB2 database 0 11 0 1 1 0 1 3
Breast Cancer Information Core (BIC) (BRCA1) 0 10 0 0 1 0 2 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 7 0 0 2 0 1 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 1 2 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 7 0 2 0 0 1 3
Michigan Medical Genetics Laboratories,University of Michigan 0 7 0 2 0 0 0 2
Sharing Clinical Reports Project (SCRP) 0 22 0 0 1 0 1 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 12 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 0 1 0 2
Vantari Genetics 0 1 0 1 1 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 0 1 0 1 2
GeneID Lab - Advanced Molecular Diagnostics 0 0 0 0 1 0 1 2
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 0 2 0 0 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 5 0 0 1 0 0 1
Blueprint Genetics, 0 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology 0 3 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 0 0 1 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 2 0 0 1 0 0 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 0 0 0 1 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 18 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 6 0 0 1 0 0 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 1152 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 234
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2658G>T (p.Gln886His) rs587780593
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.323G>A (p.Gly108Glu) rs1114167456
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.3712_3716delTTATT (p.Leu1238Lysfs) rs786201675
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) rs587781299
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000057.3(BLM):c.2075-12G>T rs28385027
NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.5035delA (p.Thr1679Leufs) rs80359477
NM_000059.3(BRCA2):c.5224_5229delAACAGT (p.Asn1742_Ser1743del) rs276174855
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.631+541T>C rs115974024
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6816_6820delAAGAG (p.Gly2274Alafs) rs587781803
NM_000059.3(BRCA2):c.6841+3A>T rs81002825
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7976+45G>C rs11571718
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9257-113T>G rs191553604
NM_000059.3(BRCA2):c.9649-243T>G rs11571827
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000179.2(MSH6):c.1081C>T (p.Arg361Cys) rs587782651
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) rs267608077
NM_000179.2(MSH6):c.1168G>A (p.Asp390Asn) rs147737737
NM_000179.2(MSH6):c.1352delT (p.Phe451Serfs) rs869312769
NM_000179.2(MSH6):c.1364A>C (p.Asn455Thr) rs200938360
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1618_1620delCTT (p.Leu540del) rs1064793600
NM_000179.2(MSH6):c.1754T>C (p.Leu585Pro) rs587779220
NM_000179.2(MSH6):c.1809G>A (p.Lys603=) rs876660790
NM_000179.2(MSH6):c.1822A>G (p.Ile608Val) rs201613780
NM_000179.2(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.2(MSH6):c.2161A>C (p.Arg721=) rs537604099
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.3029C>T (p.Thr1010Ile) rs768925694
NM_000179.2(MSH6):c.3173-18T>A rs189672273
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.3426G>A (p.Thr1142=) rs747771350
NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3557-40T>A rs189436849
NM_000179.2(MSH6):c.3722G>A (p.Cys1241Tyr) rs1021631442
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.475G>A (p.Ala159Thr) rs1553411396
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000222.2(KIT):c.1232-6C>G rs1553890995
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.109G>C (p.Glu37Gln) rs63751012
NM_000249.3(MLH1):c.1103C>T (p.Ser368Leu) rs201673334
NM_000249.3(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.3(MLH1):c.1474G>A (p.Ala492Thr) rs63751145
NM_000249.3(MLH1):c.1558+4C>T rs531873434
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1731+1G>C rs267607853
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2040C>T (p.Cys680=) rs63749867
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2104_2105delAG (p.Ser702Terfs) rs63751651
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.307-29C>A rs139620056
NM_000249.3(MLH1):c.545G>C (p.Arg182Thr) rs587779021
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1076+1G>T rs267607940
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1511-1G>A
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1659C>T (p.Asn553=) rs869312796
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2211-1G>T rs267607979
NM_000251.2(MSH2):c.2355T>C (p.His785=) rs1114167840
NM_000251.2(MSH2):c.2459-12A>G rs267608012
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.2576_2584delAATCGCAAG (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.301_306delGAAGTT (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.763A>G (p.Ser255Gly) rs761529282
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.896A>G (p.Tyr299Cys)
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000314.6(PTEN):c.-734G>A rs886047384
NM_000314.6(PTEN):c.79+35C>T rs190707033
NM_000455.4(STK11):c.464G>A (p.Gly155Glu) rs1555737830
NM_000455.4(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) rs587782504
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.2002-11C>T rs187240320
NM_000535.5(PMS2):c.1398C>T (p.Gly466=) rs752666485
NM_000535.5(PMS2):c.2182A>G (p.Thr728Ala) rs141893001
NM_000535.5(PMS2):c.2192_2196delTAACT (p.Leu731Cysfs) rs63750695
NM_000535.5(PMS2):c.250+8G>A rs1057520511
NM_000535.5(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.5(PMS2):c.804-1G>A
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.993C>T (p.Cys331=) rs186577215
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.700G>A (p.Val234Met) rs200165598
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002691.3(POLD1):c.589A>C (p.Ser197Arg) rs1040524947
NM_002878.3(RAD51D):c.394G>A (p.Val132Ile) rs201141245
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1A>G (p.Met1Val) rs786203157
NM_004329.2(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004360.3(CDH1):c.387+1G>A rs587781919
NM_004360.4(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.4(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004655.3(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_005431.1(XRCC2):c.40-16T>C rs41274991
NM_005431.1(XRCC2):c.96delT (p.Phe32Leufs) rs730882048
NM_005590.3(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.2071-53G>T rs13447742
NM_005591.3(MRE11):c.21-6_26delATATAGTGATGA rs587780138
NM_005732.3(RAD50):c.5C>T (p.Ser2Phe) rs1554096631
NM_006231.3(POLE):c.2089C>G (p.Pro697Ala) rs5744800
NM_006231.3(POLE):c.3904C>T (p.Leu1302Phe) rs1555223949
NM_006231.3(POLE):c.664C>T (p.Arg222Cys)
NM_006231.3(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006231.3(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_006231.3(POLE):c.941C>G (p.Ser314Ter) rs869312803
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007294.3(BRCA1):c.-20+185T>G rs55680227
NM_007294.3(BRCA1):c.302-70G>A rs147809611
NM_007294.3(BRCA1):c.4186-2483A>G rs8176177
NM_007294.3(BRCA1):c.4357+17A>G rs80358180
NM_007294.3(BRCA1):c.4986+1349G>T rs8176225
NM_007294.3(BRCA1):c.4987-1060G>A rs145869415
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5333-221C>A rs8176304
NM_007294.3(BRCA1):c.5333-304G>A rs55633264
NM_007294.3(BRCA1):c.5406+4_5406+7delAGTA rs1555575073
NM_007294.3(BRCA1):c.548-80T>C rs8176143
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_024642.4(GALNT12):c.907G>A (p.Asp303Asn) rs145236923
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) rs180177102
NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs) rs1555460360
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.2749-18C>T rs182194007
NM_024675.3(PALB2):c.2996+17T>C rs180177128
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_032043.2(BRIP1):c.1141-94G>T rs114901675
NM_032043.2(BRIP1):c.2038_2039dupTT (p.Leu680Phefs) rs587778134
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.918+15T>A rs117820198
NM_058216.2(RAD51C):c.1026+5_1026+7delGTA rs587781410
NM_058216.2(RAD51C):c.571+4A>G rs587780257
NM_058216.2(RAD51C):c.572-17G>T rs193023469
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_130799.2(MEN1):c.1075_1077delGAG (p.Glu359del) rs1060499971

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