ClinVar Miner

Variants from Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences with conflicting interpretations

Location: United Arab Emirates — Primary collection method: clinical testing
Minimum review status of the submission from Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences: Collection method of the submission from Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences:
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
6 4 1 1 0 0 2 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
Centre for Arab Genomic Studies,Sheikh Hamdan Award for Medical Sciences pathogenic uncertain significance
pathogenic 1 1
likely pathogenic 1 1

Submitter to submitter summary #

Total submitters: 4
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
OMIM 0 3 0 1 0 0 0 1
Invitae 0 3 0 0 0 0 1 1
GeneReviews 0 0 1 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 4
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HGVS dbSNP
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg) rs1572851186
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595

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