ClinVar Miner

Variants from The Genetics Institute, Rambam Health Care Campus with conflicting interpretations

Location: Israel  Primary collection method: clinical testing
Minimum review status of the submission from The Genetics Institute, Rambam Health Care Campus: Collection method of the submission from The Genetics Institute, Rambam Health Care Campus:
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
13 1 0 2 0 0 3 4

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
The Genetics Institute, Rambam Health Care Campus pathogenic likely pathogenic uncertain significance
pathogenic 0 1 1
likely pathogenic 1 0 1
likely benign 0 1 0

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
OMIM 0 2 0 1 0 0 0 1
Invitae 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 0 1
3billion 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) rs782304760 0.00003
NM_006031.6(PCNT):c.3465-1G>A rs755084205 0.00002
NM_018292.5(QRSL1):c.1279_1280delinsTT (p.Ala427Leu) rs1562173313
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678

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