ClinVar Miner

Variants from Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet with conflicting interpretations

Location: Denmark — Primary collection method: research
Minimum review status of the submission from Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet: Collection method of the submission from Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
327 52 4 44 4 1 23 71

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
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 2 19 2 1 0 0
likely pathogenic 26 2 10 1 2 1
uncertain significance 4 6 0 3 3 0

Submitter to submitter summary #

Total submitters: 36
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
NIHR Bioresource Rare Diseases, University of Cambridge 0 22 0 11 0 0 5 16
Invitae 0 18 0 7 3 0 4 14
Illumina Clinical Services Laboratory,Illumina 0 18 0 4 1 0 5 10
Sharon lab,Hadassah-Hebrew University Medical Center 0 14 0 8 0 0 1 9
Mendelics 0 3 0 6 0 0 2 8
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1 0 5 2 0 0 7
GeneDx 0 9 0 5 1 0 1 7
OMIM 0 4 0 5 0 1 0 6
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 10 0 2 2 0 2 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 13 0 4 1 0 1 6
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 7 0 3 2 0 0 5
Institute of Medical Molecular Genetics, University of Zurich 0 5 0 5 0 0 0 5
Blueprint Genetics 0 6 0 2 0 0 2 4
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 10 0 4 0 0 0 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 2 1 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 0 3 0 2 0 0 1 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 3 0 0 0 3
Athena Diagnostics Inc 0 2 0 0 2 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 1 0 2 0 0 0 2
Counsyl 0 3 0 1 0 0 1 2
GeneReviews 0 0 2 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 1 0 0 1 2
Natera, Inc. 0 6 0 1 0 0 0 1
NEI Ophthalmic Genomics Laboratory,National Institutes of Health 0 1 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 0 0 0 1 1
Rui Chen Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 0 1 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 0 0 1 0 0 0 1
MNM Diagnostics 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP
NM_000087.3(CNGA1):c.959C>T rs62625014
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000283.3(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter) rs61755814
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) rs104893968
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001145291.1(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278
NM_004183.4(BEST1):c.253T>C (p.Tyr85His) rs28940274
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_006269.2(RP1):c.788-2A>T rs1422250479
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter) rs267606875
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201548.4(CERKL):c.769C>T rs121909398
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.3(USH2A):c.7595-2144A>G rs786200928
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263

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