ClinVar Miner

Variants from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn: Collection method of the submission from Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn:
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
133 35 0 12 0 0 1 12

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 for Genomic Statistics and Bioinformatics, University Hospital Bonn pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 9 0 0
likely pathogenic 3 0 1 1

Submitter to submitter summary #

Total submitters: 18
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
Integrated Genetics/Laboratory Corporation of America 0 3 0 2 0 0 1 3
Blueprint Genetics 0 1 0 1 0 0 1 2
OMIM 0 29 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 0 1
Invitae 0 7 0 1 0 0 0 1
Illumina Clinical Services Laboratory,Illumina 0 2 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 4 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) rs1591672193
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001356.4(DDX3X):c.577G>T (p.Gly193Ter) rs875989803
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_176787.5(PIGN):c.1434+5G>A rs369486176
NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)

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