ClinVar Miner

Variants from Lab De Baere, Eye and Developmental Genetics Lab, Ghent University with conflicting interpretations

Location: Belgium  Primary collection method: research
Minimum review status of the submission from Lab De Baere, Eye and Developmental Genetics Lab, Ghent University: Collection method of the submission from Lab De Baere, Eye and Developmental Genetics Lab, Ghent University:
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
135 21 1 23 4 1 6 32

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
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 1 11 0 0 1 0
likely pathogenic 13 0 3 0 0 0
uncertain significance 2 1 0 3 0 1
likely benign 0 0 1 0 0 0

Submitter to submitter summary #

Total submitters: 43
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
Labcorp Genetics (formerly Invitae), Labcorp 0 6 1 4 2 0 2 9
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 6 0 4 0 0 1 5
Sharon lab, Hadassah-Hebrew University Medical Center 0 5 0 3 0 0 1 4
Illumina Laboratory Services, Illumina 0 3 0 1 2 0 0 3
Institute of Medical Molecular Genetics, University of Zurich 0 2 0 2 0 0 1 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 3 0 0 0 3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 9 0 3 0 0 0 3
3billion 0 0 0 2 0 0 0 2
GeneDx 0 3 0 2 0 0 0 2
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 3 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 1 0 0 1 2
Natera, Inc. 0 3 0 2 0 0 0 2
OMIM 0 1 1 2 0 0 0 2
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences 0 3 0 2 0 0 0 2
Baylor Genetics 0 1 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 5 0 1 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 3 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 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 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 1 0 1 0 0 0 1
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 0 0 0 1
MGZ Medical Genetics Center 0 1 0 1 0 0 0 1
Molecular Genetics Laboratory, Institute for Ophthalmic Research 0 1 0 1 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 8 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 1 0 0 0 1
OLLIN Analises Genomicas, OLLIN 0 0 0 1 0 0 0 1
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 0 2 0 1 0 0 0 1
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana 0 1 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 1 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 32
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.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175 0.00077
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000350.3(ABCA4):c.1263G>A (p.Leu421=) rs568781940 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 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_000554.6(CRX):c.122G>A (p.Arg41Gln) rs61748436 0.00001
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) rs748396645 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NM_001042472.3(ABHD12):c.1030-7T>C rs754258279
NM_004744.5(LRAT):c.487C>G (p.His163Asp) rs1010347467
NM_014249.4(NR2E3):c.196G>T (p.Gly66Cys) rs770937516
NM_152443.3(RDH12):c.697G>T (p.Val233Phe) rs140257538
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341
NM_201253.3(CRB1):c.71del (p.Asn24fs) rs1654722914

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