ClinVar Miner

Variants from Knight Diagnostic Laboratories,Oregon Health and Sciences University with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Knight Diagnostic Laboratories,Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories,Oregon Health and Sciences University:
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
55 66 19 33 44 14 21 105

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
Knight Diagnostic Laboratories,Oregon Health and Sciences University pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response risk factor other
pathogenic 15 16 8 2 3 0 1 2 8 7
likely pathogenic 17 1 6 5 3 1 1 1 0 1
uncertain significance 1 2 3 40 21 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 60
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
GeneDx 0 75 0 8 21 0 5 34
Invitae 0 69 0 3 26 0 4 33
Illumina Clinical Services Laboratory,Illumina 0 44 0 5 12 0 6 23
OMIM 0 42 0 6 0 14 2 21
Ambry Genetics 0 40 0 1 15 0 2 18
Color 0 7 0 0 18 0 0 18
GeneReviews 0 19 15 2 0 0 1 17
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 45 0 6 7 1 1 15
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 52 0 5 4 3 2 14
Counsyl 0 46 0 8 3 0 2 13
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 15 0 3 7 0 2 12
Integrated Genetics/Laboratory Corporation of America 0 35 0 2 7 0 1 10
Biesecker Lab/Human Development Section,National Institutes of Health 0 2 3 0 6 0 0 9
Genetic Services Laboratory, University of Chicago 0 15 0 4 4 1 0 9
PreventionGenetics 0 5 0 0 7 0 2 9
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 16 0 1 3 0 1 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 2 0 0 3 5
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 6 0 0 4 0 0 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 5 0 1 2 0 1 4
Athena Diagnostics Inc 0 10 0 2 0 0 1 3
Center for Human Genetics, Inc 0 2 0 0 3 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 12 0 0 2 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 0 3 0 0 3
CeGaT Praxis fuer Humangenetik Tuebingen 0 5 0 0 0 0 3 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 7 0 0 2 0 1 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 2 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 5 0 1 0 0 1 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 7 0 0 1 0 1 2
Fulgent Genetics 0 44 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
Blueprint Genetics, 0 5 0 0 2 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 1 0 0 2 0 0 2
CSER_CC_NCGL; University of Washington Medical Center 0 14 0 0 2 0 0 2
NIHR Bioresource Rare Diseases,University of Cambridge 0 3 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 3 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 1 0 0 2
True Health Diagnostics 0 6 0 0 2 0 0 2
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 0 2 0 0 2
Molecular Otolaryngology and Renal Research Laboratories,University of Iowa Hospital and Clinics 0 0 0 1 0 0 0 1
Michigan Medical Genetics Laboratories,University of Michigan 0 1 0 0 1 0 0 1
Mendelics 0 6 0 1 0 0 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 0 1 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 3 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 4 0 0 1 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 12 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 0 1 0 0 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 2 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 0 1 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 4 0 0 1 0 0 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 1 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1
Department of Molecular Innovation in Lipidology,National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 2 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 105
Download table as spreadsheet
HGVS dbSNP
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000027.3(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000048.3(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000059.3(BRCA2):c.7995T>C (p.Asp2665=) rs200757418
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.4346T>G (p.Val1449Gly) rs79011683
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000094.3(COL7A1):c.8371C>T (p.Arg2791Trp) rs142566193
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000137.2(FAH):c.81+2T>A rs772895065
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000157.3(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000187.3(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000222.2(KIT):c.1195G>A (p.Val399Ile) rs143707288
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000288.3(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000426.3(LAMA2):c.2556delT (p.Phe852Leufs) rs750731624
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000441.1(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000535.6(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.14670G>C (p.Val4890=) rs773080803
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001024847.2(TGFBR2):c.1090C>T (p.Arg364Trp) rs761991787
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5753C>T (p.Thr1918Met) rs748516947
NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128835.2(TRAPPC2):c.12G>A (p.Trp4Ter) rs746032983
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001204798.1(KCNH2):c.78C>T (p.Ala26=) rs200324802
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.91981+4T>C rs373514079
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_002691.3(POLD1):c.2052G>C (p.Gln684His) rs144143245
NM_003001.3(SDHC):c.*78G>A rs182629842
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004360.5(CDH1):c.1297G>A (p.Asp433Asn) rs199886166
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004614.4(TK2):c.323C>T (p.Thr108Met) rs137854431
NM_004937.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_005609.2(PYGM):c.425_528del rs764313717
NM_006231.3(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_018129.3(PNPO):c.448_451delCCTG (p.Pro150Argfs) rs796052872
NM_024022.2(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.6645+1G>A rs201218801
NM_033629.2(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_133379.4(TTN):c.10361-5delT rs58651353
NM_144672.3(OTOA):c.828delT (p.Ser277Valfs) rs751447996
NM_201590.2(CACNB2):c.-190048T>G rs74120235
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
UGT1A1*6 rs4148323

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