ClinVar Miner

Variants from Human Genetics Disease in Children – Taif University,Taif University with conflicting interpretations

Location: Saudi Arabia — Primary collection method: clinical testing
Minimum review status of the submission from Human Genetics Disease in Children – Taif University,Taif University: Collection method of the submission from Human Genetics Disease in Children – Taif University,Taif University:
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
9 4 0 2 0 0 1 3

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
Human Genetics Disease in Children – Taif University,Taif University likely benign
likely pathogenic 1
benign 2

Submitter to submitter summary #

Total submitters: 1
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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
Illumina Clinical Services Laboratory,Illumina 0 2 0 2 0 0 1 3

All variants with conflicting interpretations #

Total variants: 3
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HGVS dbSNP
NM_014625.3(NPHS2):c.*200G>A rs2274623
NM_014625.3(NPHS2):c.*258A>G rs2274622
NM_014625.3(NPHS2):c.-51G>T rs12406197

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