ClinVar Miner

Variants from NIHR Bioresource Rare Diseases,University of Cambridge with conflicting interpretations

Location: United Kingdom — Primary collection method: research
Minimum review status of the submission from NIHR Bioresource Rare Diseases,University of Cambridge: Collection method of the submission from NIHR Bioresource Rare Diseases,University of Cambridge:
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
277 97 6 98 7 3 80 170

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
NIHR Bioresource Rare Diseases,University of Cambridge pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 5 12 3 0 0 0 0
likely pathogenic 85 1 66 16 7 2 1
uncertain significance 6 4 0 3 2 0 0
likely benign 0 0 3 0 2 0 0

Submitter to submitter summary #

Total submitters: 42
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 36 0 31 3 1 37 72
GeneDx 0 46 0 39 1 0 13 53
OMIM 0 26 0 36 0 2 1 37
Counsyl 0 43 0 14 0 0 22 36
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 20 0 16 4 0 15 35
Illumina Clinical Services Laboratory,Illumina 0 7 0 17 1 0 15 32
Fulgent Genetics 0 10 0 11 1 0 1 13
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 13 0 12 0 0 1 13
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 0 1 0 12 13
Human Genetics - Radboudumc,Radboudumc 0 19 0 10 0 0 3 13
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 10 0 8 0 0 4 12
Ambry Genetics 0 4 0 6 2 0 2 10
GeneReviews 0 1 5 5 0 0 0 10
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 3 1 0 3 7
Invitae 0 5 0 4 0 0 2 6
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 4 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 3 1 0 2 6
Genetic Services Laboratory, University of Chicago 0 3 0 3 0 0 2 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 4 0 0 0 4
Baylor Miraca Genetics Laboratories, 0 1 0 1 0 0 2 3
Athena Diagnostics Inc 0 1 0 1 0 0 2 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 1 0 0 1 3
Institute for Ophthalmic Research,University Tuebingen 0 2 0 3 0 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 1 2
Integrated Genetics/Laboratory Corporation of America 0 2 0 2 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 3 0 2 0 0 0 2
Rui Chen Lab,Baylor College of Medicine 0 0 0 2 0 0 0 2
Broad Institute Rare Disease Group,Broad Institute 0 0 0 2 0 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
PXE International 0 1 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 1 0 0 0 1
UW Hindbrain Malformation Research Program,University of Washington 0 0 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Center for Statistical Genetics,Baylor College of Medicine 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases,University of Cambridge 514 29 0 1 0 0 0 1
Molecular Medicine,University of Leeds 0 1 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 1 0 0 0 0 1 1
Laboratory of Medical Genetics,INSERM 0 1 0 1 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 170
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000260.3(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3764delA (p.Lys1255Argfs) rs111033347
NM_000283.3(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981
NM_000283.3(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131
NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) rs869312177
NM_000283.3(PDE6B):c.739T>A (p.Phe247Ile) rs780521818
NM_000326.4(RLBP1):c.677T>A (p.Met226Lys) rs137853291
NM_000329.2(RPE65):c.11+5G>A rs61751276
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4253+5G>A rs61750138
NM_000350.2(ABCA4):c.4253+5G>T rs61750138
NM_000350.2(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_000440.2(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000550.2(TYRP1):c.1261+1G>A rs140365820
NM_000843.4(GRM6):c.137C>T (p.Pro46Leu) rs62638197
NM_001004334.3(GPR179):c.984delC (p.Ser329Leufs) rs770066665
NM_001023570.3(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001030311.2(CERKL):c.613+4_613+5delAG rs766131721
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.461-280_677+383del rs1555468632
NM_001042432.1(CLN3):c.837+5G>A rs756848924
NM_001042432.1(CLN3):c.988G>A (p.Val330Ile) rs386833744
NM_001142564.1(CNGA1):c.1747C>T (p.Arg583Ter) rs199584830
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.1(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145849.1(PROM1):c.1177_1178delAT (p.Ile393Argfs) rs746174328
NM_001171.5(ABCC6):c.3389C>T (p.Thr1130Met) rs63750459
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_001271441.1(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_001297.4(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001297.4(CNGB1):c.413-1G>A rs189234741
NM_001297.4(CNGB1):c.952C>T (p.Gln318Ter) rs372504780
NM_001298.2(CNGA3):c.1688G>A (p.Arg563His) rs552069173
NM_001298.2(CNGA3):c.967G>C (p.Ala323Pro) rs146195955
NM_002420.5(TRPM1):c.3004A>T (p.Ile1002Phe) rs369484186
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005709.3(USH1C):c.238dupC (p.Arg80Profs) rs397515359
NM_006017.2(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.2(PROM1):c.1354dupT (p.Tyr452Leufs) rs543698823
NM_006017.2(PROM1):c.1579-1G>C rs372513650
NM_006214.3(PHYH):c.678+5G>T rs201499815
NM_006214.3(PHYH):c.823C>T (p.Arg275Trp) rs104894178
NM_006269.1(RP1):c.515T>G (p.Leu172Arg) rs180729424
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006343.2(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_014014.4(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014336.4(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_017651.4(AHI1):c.2988delA (p.Val997Serfs) rs755246809
NM_017890.4(VPS13B):c.2591C>A (p.Ser864Ter) rs140936527
NM_017890.4(VPS13B):c.6370_6371delAT rs748404277
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.1285delT (p.Ser429Leufs) rs776896038
NM_019098.4(CNGB3):c.2103+1G>A rs1554604767
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_031433.3(MFRP):c.955C>T (p.Gln319Ter) rs1555037395
NM_032119.3(ADGRV1):c.12798T>A (p.Tyr4266Ter) rs777309662
NM_032119.3(ADGRV1):c.17314C>T (p.Arg5772Ter) rs749956288
NM_032119.3(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_033100.3(CDHR1):c.2522_2528delTCTCTGA (p.Ile841Serfs) rs794727197
NM_130445.2(COL18A1):c.3514_3515delCT (p.Leu1172Valfs) rs398122391
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) rs386834261
NM_152778.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_153676.3(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_172364.4(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356
NM_181714.3(LCA5):c.633_639delAGCTAGA (p.Glu211Aspfs) rs878853382
NM_201253.2(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.2(CRB1):c.1183G>T (p.Glu395Ter) rs369775002
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.2(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.2(USH2A):c.1055C>T (p.Thr352Ile) rs780308389
NM_206933.2(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) rs527236139
NM_206933.2(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.2(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.2(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156
NM_206933.2(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.2(USH2A):c.12819T>A (p.Tyr4273Ter) rs1362058696
NM_206933.2(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.2(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.2(USH2A):c.13274C>T (p.Thr4425Met) rs201238640
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.2(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671
NM_206933.2(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877
NM_206933.2(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.2(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.2(USH2A):c.3158-6A>G rs397518010
NM_206933.2(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.2(USH2A):c.5603T>G (p.Phe1868Cys) rs1553298240
NM_206933.2(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911
NM_206933.2(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.2(USH2A):c.653T>A (p.Val218Glu) rs397518026
NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.2(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_206933.2(USH2A):c.7595-2144A>G rs786200928
NM_206933.2(USH2A):c.7595-3C>G rs201657446
NM_206933.2(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533
NM_206933.2(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.2(USH2A):c.9571-2A>G rs751111524
NM_206933.2(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276
NM_206933.2(USH2A):c.9976C>T (p.Gln3326Ter) rs1288381992

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