ClinVar Miner

Variants from Institute of Medical Molecular Genetics, University of Zurich with conflicting interpretations

Location: Switzerland  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical Molecular Genetics, University of Zurich: Collection method of the submission from Institute of Medical Molecular Genetics, University of Zurich:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
101 19 0 67 0 2 6 69

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 of Medical Molecular Genetics, University of Zurich pathogenic likely pathogenic uncertain significance likely benign drug response other
pathogenic 0 1 0 0 0 0
likely pathogenic 66 0 5 1 1 1
uncertain significance 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 76
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
OMIM 0 4 0 20 0 1 1 22
3billion 0 5 0 12 0 0 1 13
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 6 0 12 0 0 0 12
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 9 0 0 0 9
Mendelics 0 1 0 6 0 0 3 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 0 9 0 0 0 9
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 1 0 8 0 0 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 6 0 0 2 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 6 0 0 0 6
Sharon lab, Hadassah-Hebrew University Medical Center 0 2 0 6 0 0 0 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 0 5 0 0 0 5
Revvity Omics, Revvity 0 1 0 4 0 0 1 5
Baylor Genetics 0 1 0 4 0 0 0 4
MGZ Medical Genetics Center 0 2 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 0 4 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 3 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 2 0 0 1 3
Fulgent Genetics, Fulgent Genetics 0 5 0 3 0 0 0 3
GeneReviews 0 3 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 0 0 3 0 0 0 3
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 3 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2 0 3 0 0 0 3
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 2 0 2 0 0 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 3 0 0 0 3
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 5 0 3 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 2 0 0 0 2
ClinGen X-linked Inherited Retinal Disease Variant Curation Expert Panel, ClinGen 0 1 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1 2
DBGen Ocular Genomics 0 1 0 1 0 0 1 2
GeneDx 0 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 0 0 2 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 2 0 0 0 2
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 2 0 0 0 2
Leeds Institute of Medical Research, University of Leeds 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 0 2 0 0 0 2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 2 0 0 0 2
OLLIN Analises Genomicas, OLLIN 0 0 0 2 0 0 0 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 0 0 0 2 0 0 0 2
Variantyx, Inc. 0 2 0 2 0 0 0 2
Biesecker Lab/Clinical Genomics Section, 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
Blueprint Genetics 0 2 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision 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
Clinical Genetics Laboratory, Federal University of Health Sciences of Porto Alegre 0 0 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 0 0 1 1
Counsyl 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 1 0 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 1 0 1 0 0 0 1
Dubai Health Genomic Medicine Center, Dubai Health 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 4 0 1 0 0 0 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 1 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Laboratorio de Imunogenetica e Histocompatibilidade, Universidade Federal do Parana 0 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 1 0 0 0 1
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Natera, Inc. 0 0 0 1 0 0 0 1
Neonatal Department of Longyan Division, Tianjin Children's Hospital, Tianjin University Children's Hospital 0 0 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
Rui Chen Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 69
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00304
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00032
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00032
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00028
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760 0.00018
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00009
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046 0.00001
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_019098.5(CNGB3):c.1167_1168insC (p.Glu390fs) rs1389959147 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000330.4(RS1):c.150G>A (p.Trp50Ter) rs200866925
NM_000330.4(RS1):c.598C>T (p.Arg200Cys) rs281865357
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) rs121918542
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.73C>T (p.Arg25Trp) rs281865214
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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