ClinVar Miner

Variants from CZECANCA consortium with conflicting interpretations

Location: Czechia — Primary collection method: clinical testing
Minimum review status of the submission from CZECANCA consortium: Collection method of the submission from CZECANCA consortium:
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
83 81 0 8 0 6 12 24

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
CZECANCA consortium pathogenic likely pathogenic uncertain significance risk factor
pathogenic 0 6 5 6
likely pathogenic 2 0 7 0

Submitter to submitter summary #

Total submitters: 17
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
GeneDx 0 79 0 5 0 0 5 10
OMIM 0 0 0 0 0 5 0 5
PreventionGenetics, PreventionGenetics 0 14 0 1 0 0 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 58 0 0 0 0 2 2
Illumina Clinical Services Laboratory,Illumina 0 3 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 31 0 1 0 0 1 2
Leiden Open Variation Database 0 2 0 0 0 0 2 2
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 10 0 1 0 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1 0 1
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 24 0 0 0 0 1 1
Integrated Genetics/Laboratory Corporation of America 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 9 0 0 0 0 1 1
Fulgent Genetics,Fulgent Genetics 0 6 0 0 0 0 1 1
GeneKor MSA 0 9 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 10 0 0 0 0 1 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 34 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.4(BRCA2):c.658_659del rs80359604
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_002485.4(NBN):c.37+1G>A rs574673404
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.1_2delAT rs876661246
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.