ClinVar Miner

Variants from Molecular Genetics and Enzymology, National Research Centre with conflicting interpretations

Location: Egypt — Primary collection method: not provided
Minimum review status of the submission from Molecular Genetics and Enzymology, National Research Centre: Collection method of the submission from Molecular Genetics and Enzymology, National Research Centre:
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
4 0 0 0 1 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
Molecular Genetics and Enzymology, National Research Centre pathogenic benign
likely pathogenic 0 1
uncertain significance 2 1

Submitter to submitter summary #

Total submitters: 4
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
Central Research Laboratory,Sri Devaraj Urs Academy of Higher Education and Research 0 0 0 0 0 0 2 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 0 0 1 1
Ambry Genetics 0 0 0 0 0 0 1 1
PreventionGenetics 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_000192.3(TBX5):c.663+36G>T rs2236017
NM_002052.4(GATA4):c.1129A>G (p.Ser377Gly) rs3729856
NM_002052.4(GATA4):c.909+25G>A rs147860174
NM_002052.4(GATA4):c.997+56C>A rs804280

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