ClinVar Miner

Variants from Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.: Collection method of the submission from Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:
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
3 31 11 115 94 6 9 148

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
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 3 4 1 0 0 3 1
likely pathogenic 0 0 1 0 0 0 0
uncertain significance 1 2 2 19 10 1 0
likely benign 4 0 74 6 111 1 0

Submitter to submitter summary #

Total submitters: 58
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
Invitae 0 45 0 97 16 0 2 115
Ambry Genetics 0 68 0 77 12 0 1 90
Color 0 74 0 69 15 0 2 86
GeneDx 0 61 0 66 5 0 1 72
PreventionGenetics 0 30 0 58 4 0 0 62
Integrated Genetics/Laboratory Corporation of America 0 35 0 45 9 0 2 56
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 20 0 49 2 0 0 51
Department of Pathology and Laboratory Medicine,Sinai Health System 0 20 0 45 6 0 0 51
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 19 0 46 1 0 0 47
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 25 0 38 3 0 0 41
Breast Cancer Information Core (BIC) (BRCA2) 0 16 0 6 30 0 1 37
Counsyl 0 78 0 26 5 0 2 33
Michigan Medical Genetics Laboratories,University of Michigan 0 13 0 30 1 0 0 31
Sharing Clinical Reports Project (SCRP) 0 25 0 29 2 0 0 31
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 12 0 27 1 0 0 28
Breast Cancer Information Core (BIC) (BRCA1) 0 11 0 2 20 0 0 22
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 8 5 7 0 0 20
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 12 0 19 0 0 0 19
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 21 0 4 11 0 0 15
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 4 0 15 0 0 0 15
Baylor Miraca Genetics Laboratories, 0 4 0 14 0 0 0 14
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 16 0 13 0 0 0 13
Quest Diagnostics Nichols Institute San Juan Capistrano 0 43 0 12 1 0 0 13
Vantari Genetics 0 8 0 11 2 0 0 13
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 3 0 5 5 0 1 11
Pathway Genomics 0 15 0 10 1 0 0 11
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 16 0 7 2 0 1 10
OMIM 0 4 0 0 1 5 3 9
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 20 0 8 1 0 0 9
Genetic Services Laboratory, University of Chicago 0 40 0 6 2 0 1 9
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 26 0 9 0 0 0 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 9 0 6 2 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 48 0 1 6 0 1 8
True Health Diagnostics 0 41 0 7 1 0 0 8
Mendelics 0 21 0 1 5 0 0 6
PALB2 database 0 4 0 5 1 0 0 6
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 2 0 6 0 0 0 6
CSER_CC_NCGL; University of Washington Medical Center 0 14 0 1 4 0 0 5
GeneKor MSA 0 11 0 4 1 0 0 5
Athena Diagnostics Inc 0 1 0 4 0 0 0 4
GeneReviews 0 1 3 0 0 0 1 4
Fulgent Genetics 0 17 0 3 1 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 8 0 4 0 0 0 4
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 6 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 0 0 3 0 0 3
Department of Pathology and Molecular Medicine,Queen's University 0 7 0 3 0 0 0 3
University of Washington Department of Laboratory Medicine,University of Washington 0 7 0 0 2 0 1 3
Department of Medical Genetics,University Hospital of North Norway 0 4 0 2 0 0 0 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 3 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 1 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
HudsonAlpha Institute for Biotechnology 0 2 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 0 0 1 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 3 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 148
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4612-4T>G rs569983068
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.7044G>A (p.Thr2348=) rs140104789
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.8419-19A>G rs12279930
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2044A>T (p.Ile682Phe) rs398122738
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.3(BRCA2):c.5126A>G (p.Asp1709Gly) rs786202836
NM_000059.3(BRCA2):c.516+21A>T rs11571622
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.68-7delT rs276174878
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.9015A>G (p.Arg3005=) rs1060502477
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000249.3(MLH1):c.307-29C>A rs139620056
NM_000251.2(MSH2):c.-68-34T>C rs17217709
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.598-8C>T rs373610101
NM_000465.3(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.782+17C>T rs17880172
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
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.505-4A>G rs201678305
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_004360.4(CDH1):c.2439+10C>T rs35236080
NM_004360.4(CDH1):c.324A>G (p.Arg108=) rs116542018
NM_004360.4(CDH1):c.532-18C>T rs200673941
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007294.3(BRCA1):c.*36C>G rs3092995
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.212+23T>A rs8176128
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365
NM_007294.3(BRCA1):c.4358-2725T>C rs374519494
NM_007294.3(BRCA1):c.4484+14A>G rs80358022
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.671-2A>C rs80358108
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2474G>C (p.Arg825Thr) rs146218439
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=) rs61754141
NM_032043.2(BRIP1):c.2765T>G (p.Leu922Ter) rs587782410
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.7G>A (p.Gly3Arg) rs376403182

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