ClinVar Miner

Variants from Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf with conflicting interpretations

Location: unspecified — Primary collection method: research
Minimum review status of the submission from Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf: Collection method of the submission from Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf:
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
7 3 0 1 3 0 6 10

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
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
uncertain significance 5 3 3 1

Submitter to submitter summary #

Total submitters: 6
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
Ambry Genetics 0 5 0 0 2 0 6 8
Color Health, Inc 0 4 0 1 2 0 5 8
GeneKor MSA 0 2 0 0 0 0 3 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 0 0 3 3
True Health Diagnostics 0 0 0 0 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_006361.6(HOXB13):c.251G>A rs138213197
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+3A>G rs587781279
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_032043.2(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717

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