ClinVar Miner

Variants from Medical Molecular Genetics Department, National Research Center with conflicting interpretations

Location: Egypt — Primary collection method: clinical testing
Minimum review status of the submission from Medical Molecular Genetics Department, National Research Center: Collection method of the submission from Medical Molecular Genetics Department, National Research Center:
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
56 13 0 4 2 0 1 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
Medical Molecular Genetics Department, National Research Center pathogenic likely pathogenic uncertain significance benign
pathogenic 0 3 1 0
likely pathogenic 1 0 0 0
uncertain significance 0 0 0 1
benign 0 0 1 0

Submitter to submitter summary #

Total submitters: 5
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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 1 0 2 0 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 5 0 0 2 0 0 2
Counsyl 0 4 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Amsterdam Leukodystrophy Center,Amsterdam UMC 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)
NM_021939.3(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.3(FKBP10):c.590A>G (p.Lys197Arg) rs34764749

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