ClinVar Miner

Variants from Institute of Medical and Molecular Genetics, Hospital Universitario La Paz with conflicting interpretations

Location: Spain  Primary collection method: clinical testing
Minimum review status of the submission from Institute of Medical and Molecular Genetics, Hospital Universitario La Paz: Collection method of the submission from Institute of Medical and Molecular Genetics, Hospital Universitario La Paz:
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
3 5 0 5 0 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
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz pathogenic likely pathogenic uncertain significance
pathogenic 0 4 1
likely pathogenic 1 0 1

Submitter to submitter summary #

Total submitters: 7
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
Institute of Tissue Medicine and Pathology, University of Bern 0 0 0 3 0 0 0 3
GeneDx 0 2 0 0 0 0 2 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 8 0 0 0 0 1 1
MAGI's Lab - Research, MAGI Group 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279

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