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:
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
112 16 0 56 0 1 8 61

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 established risk allele other
pathogenic 0 1 1 0 0 0
likely pathogenic 55 0 6 1 1 1
uncertain significance 1 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 59
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 21 0 0 1 22
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 9 0 12 0 0 1 13
Mendelics 0 1 0 6 0 0 3 9
3billion 0 5 0 7 0 0 1 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 4 0 0 2 6
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 5 0 1 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
MGZ Medical Genetics Center 0 2 0 4 0 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 4 0 0 0 4
Molecular Genetics, Royal Melbourne Hospital 0 1 0 4 0 0 0 4
Baylor Genetics 0 1 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 3 0 0 0 3
GeneReviews 0 3 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
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 3 0 3 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 0 1 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 0 0 3 0 0 0 3
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 1 0 3 0 0 0 3
Genomics England Pilot Project, Genomics England 0 0 0 3 0 0 0 3
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 0 0 2 0 0 0 2
GeneDx 0 0 0 2 0 0 0 2
Revvity Omics, Revvity 0 2 0 2 0 0 0 2
NEI Ophthalmic Genomics Laboratory, National Institutes of Health 0 0 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 0 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 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
CeGaT Center for Human Genetics Tuebingen 0 0 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 2 0 0 0 2
Molecular Medicine, University of Leeds 0 0 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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1 2
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 2 0 0 0 2
DBGen Ocular Genomics 0 1 0 1 0 0 1 2
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 0 0 1 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Counsyl 0 1 0 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 0 1 0 0 0 1
Invitae 0 0 0 0 0 0 1 1
Eurofins Ntd Llc (ga) 0 0 0 0 0 0 1 1
Fulgent Genetics, Fulgent Genetics 0 4 0 1 0 0 0 1
Blueprint Genetics 0 2 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 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
Rui Chen Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
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 0.00036
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
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 0.00010
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_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.1A>G (p.Met1Val) rs201738997 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.4919G>A (p.Arg1640Gln) rs61751403 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_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) rs754494518 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_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+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
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.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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