ClinVar Miner

Variants from Dr. Peter K. Rogan Lab,Western University with conflicting interpretations

Location: Canada — Primary collection method: research
Minimum review status of the submission from Dr. Peter K. Rogan Lab,Western University: Collection method of the submission from Dr. Peter K. Rogan Lab,Western 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
2 1 0 3 1 0 2 6

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
Dr. Peter K. Rogan Lab,Western University pathogenic uncertain significance likely benign benign
likely pathogenic 3 2 0 0
uncertain significance 0 0 1 1

Submitter to submitter summary #

Total submitters: 15
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
Ambry Genetics 0 1 0 3 1 0 1 5
Invitae 0 0 0 1 1 0 2 4
Integrated Genetics/Laboratory Corporation of America 0 0 0 1 1 0 1 3
Counsyl 0 2 0 1 0 0 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 0 1 0 1 2
Color 0 0 0 1 0 0 1 2
GeneDx 0 3 0 1 0 0 0 1
PreventionGenetics 0 1 0 0 0 0 1 1
Michigan Medical Genetics Laboratories,University of Michigan 0 0 0 0 1 0 0 1
Mendelics 0 0 0 1 0 0 0 1
Fulgent Genetics 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA2) 0 0 0 0 1 0 0 1
Pathway Genomics 0 0 0 0 1 0 0 1
GeneKor MSA 0 1 0 1 0 0 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_005591.3(MRE11):c.2070+2T>A rs786202801
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter) rs375699023

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