ClinVar Miner

Variants from Institute of Human Genetics, Cologne University with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Cologne University: Collection method of the submission from Institute of Human Genetics, Cologne University:
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
407 46 0 26 4 1 12 42

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 Human Genetics, Cologne University pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 11 5 0 0 0
likely pathogenic 15 0 5 0 0 0
uncertain significance 1 2 0 4 2 1

Submitter to submitter summary #

Total submitters: 40
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
Invitae 0 19 0 3 3 0 5 11
OMIM 0 14 0 5 0 0 0 5
Baylor Genetics 0 13 0 3 0 0 1 4
Genome-Nilou Lab 0 3 0 2 0 0 1 3
MGZ Medical Genetics Center 0 4 0 1 0 0 1 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 4 0 1 0 0 1 2
Fulgent Genetics, Fulgent Genetics 0 10 0 2 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 3 0 2 0 0 0 2
Illumina Laboratory Services, Illumina 0 4 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 1 0 0 1 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 2 0 0 0 2
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 2 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 0 2 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 2 0 0 2
3billion 0 4 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 0 0 0 0 0 1 1
GeneDx 0 1 0 0 1 0 0 1
Medical Genomics Laboratory, Department of Genetics UAB 0 0 0 0 0 0 1 1
Natera, Inc. 0 5 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 0 0 1 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 0 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378183.1(PIEZO2):c.3730G>A (p.Val1244Met) rs73946020 0.00599
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_001394062.1(MACF1):c.4045C>A (p.Leu1349Met) rs141025026 0.00088
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130 0.00009
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841 0.00002
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_001394062.1(MACF1):c.12857C>T (p.Ala4286Val) rs573837366 0.00001
NM_004553.6(NDUFS6):c.309+5G>A rs763535523 0.00001
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035 0.00001
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg) rs886039869
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001170629.2(CHD8):c.4875G>A (p.Trp1625Ter) rs1555314116
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_022041.4(GAN):c.1502+1G>T rs1555511978
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647
NM_176787.5(PIGN):c.1790del (p.Phe597fs) rs1599531710
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs) rs1797574932
NM_182931.3(KMT2E):c.264A>G (p.Glu88=) rs2129567228
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs) rs1243172283
NM_205861.3(DHDDS):c.113G>A (p.Arg38His) rs1570332505

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