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 Variants with at least 2 submissions 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 kind of conflict
139 22 1 8 1 0 9 17

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
pathogenic 1 7 3 1
likely pathogenic 1 0 2 0
uncertain significance 4 2 0 1

Submitter to submitter summary #

Total submitters: 19
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 11 0 2 1 0 7 10
GeneDx 0 9 0 1 0 0 6 7
Athena Diagnostics Inc 0 4 0 1 0 0 3 4
OMIM 0 14 0 1 0 0 2 3
Illumina Clinical Services Laboratory,Illumina 0 3 0 1 0 0 2 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 0 0 1 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 1 2
Ambry Genetics 0 1 0 0 0 0 2 2
GeneReviews 0 2 1 0 0 0 1 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 1 2
SIB Swiss Institute of Bioinformatics 0 0 0 2 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 0 0 0 1 1
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 0 0 0 0 1 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 0 0 1 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP
NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) rs768119034
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_001127660.1(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_001127660.1(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.2911_2912delAG (p.Arg971Glufs) rs724159994
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_004960.3(FUS):c.1564A>G (p.Arg522Gly) rs1555509693
NM_007126.4(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_014140.3(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) rs145266399
NM_015346.3(ZFYVE26):c.2254C>T (p.Gln752Ter) rs1057518016
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018972.2(GDAP1):c.715C>T (p.Leu239Phe) rs104894080
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144

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