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
121 16 0 47 0 1 7 52

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 other
pathogenic 0 1 1 0 0
likely pathogenic 46 0 4 1 1
uncertain significance 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 37
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 2 0 19 0 0 1 20
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
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 6 0 0 0 6
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 5 0 5 0 0 0 5
GeneReviews 0 0 0 5 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 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
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 0 0 2 0 0 0 2
Illumina Clinical Services Laboratory,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 Praxis fuer Humangenetik Tuebingen 0 0 0 2 0 0 0 2
Human Genetics - Radboudumc,Radboudumc 0 2 0 2 0 0 0 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 2 0 0 0 2
Molecular Medicine,University of Leeds 0 0 0 2 0 0 0 2
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 0 0 2 0 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Counsyl 0 1 0 1 0 0 0 1
Invitae 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 0 0 0 1 1
Blueprint Genetics 0 2 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 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
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 0 1
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 0 0 1 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

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000328.3(RPGR):c.1905+521_1905+522del rs730882261
NM_000330.3(RS1):c.304C>T (p.Arg102Trp) rs61752067
NM_000350.2(ABCA4):c.5882G>A rs1800553
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.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
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.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
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_004183.3(BEST1):c.884_886delTCA (p.Ile295del) rs121918283
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_019098.4(CNGB3):c.1578+1G>A rs372006750
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_025114.4(CEP290):c.2991+1655A>G rs281865192
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_145178.4(ATOH7):c.176C>T (p.Ala59Val) rs754494518
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187

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