ClinVar Miner

Variants from Human Genetics - Radboudumc,Radboudumc with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from Human Genetics - Radboudumc,Radboudumc: Collection method of the submission from Human Genetics - Radboudumc,Radboudumc:
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
92 38 4 27 1 1 21 48

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
Human Genetics - Radboudumc,Radboudumc pathogenic likely pathogenic uncertain significance likely benign risk factor
pathogenic 4 20 4 1 1
likely pathogenic 7 0 2 1 0
uncertain significance 9 8 0 1 0

Submitter to submitter summary #

Total submitters: 28
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
NIHR Bioresource Rare Diseases,University of Cambridge 0 19 0 10 0 0 3 13
GeneDx 0 21 0 3 1 0 6 10
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 24 0 5 1 0 4 10
OMIM 0 20 0 4 0 1 3 8
Illumina Clinical Services Laboratory,Illumina 0 13 0 5 0 0 3 8
Counsyl 0 15 0 3 0 0 2 5
GeneReviews 0 0 4 1 0 0 0 5
Fulgent Genetics 0 7 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 0 1 0 2 3
Institute for Ophthalmic Research,University Tuebingen 0 2 0 1 0 0 2 3
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 3 0 3 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 12 0 2 0 0 0 2
Ambry Genetics 0 2 0 2 0 0 0 2
Invitae 0 3 0 1 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 4 0 2 0 0 0 2
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 1 0 0 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics,INSERM 0 1 0 0 0 0 1 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000283.3(PDE6B):c.1923_1969del47insTCTGGG (p.Asn643Glyfs) rs869312177
NM_000283.3(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823
NM_000329.2(RPE65):c.11+5G>A rs61751276
NM_000329.2(RPE65):c.499G>T (p.Asp167Tyr) rs61752883
NM_000350.2(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.6729+5_6729+19delGTTGGCCCTGGGGCA rs749526785
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_001006657.1(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_001034853.1(RPGR):c.2384delA (p.Glu795Glyfs)
NM_001042432.1(CLN3):c.1213C>T (p.Arg405Trp) rs139842473
NM_001042432.1(CLN3):c.379delC (p.Arg127Glyfs) rs386833717
NM_001042472.2(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001077620.2(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001142800.1(EYS):c.6714delT (p.Ile2239Serfs) rs752953889
NM_001257965.1(CRB1):c.291_299delAATTGATGG (p.Ile98_Gly100del) rs398124615
NM_001297.4(CNGB1):c.413-1G>A rs189234741
NM_001298.2(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891
NM_001298.2(CNGA3):c.847C>T (p.Arg283Trp) rs104893613
NM_004183.3(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_016247.3(IMPG2):c.513T>G (p.Tyr171Ter) rs763295314
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_019098.4(CNGB3):c.1148delC (p.Thr383Ilefs) rs397515360
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.991-3T>G rs773372519
NM_022124.5(CDH23):c.1515-12G>A rs369396703
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_152443.2(RDH12):c.806_810delCCCTG (p.Ala269Glyfs) rs386834261
NM_152618.2(BBS12):c.1055A>C (p.Gln352Pro)
NM_174878.2(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_206933.2(USH2A):c.11156G>A (p.Arg3719His) rs527236139
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.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.2(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.2(USH2A):c.2299delG (p.Glu767Serfs) rs80338903
NM_206933.2(USH2A):c.486-14G>A rs374536346
NM_206933.2(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.2(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950

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