ClinVar Miner

Variants from International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota: Collection method of the submission from International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota:
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
1 75 0 5 0 0 2 7

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
International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota likely pathogenic uncertain significance
pathogenic 5 2

Submitter to submitter summary #

Total submitters: 4
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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
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 74 0 4 0 0 0 4
ClinGen DICER1 and miRNA-Processing Gene Variant Curation Expert Panel, ClinGen 0 6 0 2 0 0 1 3
Labcorp Genetics (formerly Invitae), Labcorp 0 32 0 1 0 0 1 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_177438.3(DICER1):c.2236A>G (p.Arg746Gly) rs886037686
NM_177438.3(DICER1):c.4748T>G (p.Leu1583Arg) rs137852976
NM_177438.3(DICER1):c.5123G>A (p.Gly1708Glu) rs886037724
NM_177438.3(DICER1):c.5465A>T (p.Asp1822Val) rs886037729
NM_177438.3(DICER1):c.735-1_741delinsA rs886037731
NM_177438.3(DICER1):c.745C>T (p.Gln249Ter) rs886037732
NM_177438.3(DICER1):c.832C>T (p.Leu278Phe) rs768248216

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