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
274 22 2 10 1 1 7 20

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 benign other
pathogenic 2 4 5 0 0
likely pathogenic 6 0 1 0 0
uncertain significance 1 0 0 1 1

Submitter to submitter summary #

Total submitters: 23
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 10 0 1 1 0 3 5
OMIM 0 14 0 3 0 0 0 3
Baylor Genetics 0 5 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 0 2
GeneReviews 0 1 2 0 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
Medical Genomics Laboratory,Department of Genetics UAB 0 0 0 0 0 0 1 1
Natera, Inc. 0 3 0 1 0 0 0 1
Mendelics 0 1 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 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
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 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
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 1 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

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000138.4(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001098484.3(SLC4A4):c.831del (p.Lys277fs) rs1553913019
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001363118.2(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004456.4(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) rs267607035
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_022041.3(GAN):c.1502+1G>T rs1555511978
NM_022068.3(PIEZO2):c.3655G>A (p.Val1219Met) rs73946020
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs) rs312262775
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)

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