ClinVar Miner

Variants from Bone Marrow Failure laboratory, Queen Mary University London with conflicting interpretations

Location: United Kingdom  Primary collection method: research
Minimum review status of the submission from Bone Marrow Failure laboratory, Queen Mary University London: Collection method of the submission from Bone Marrow Failure laboratory, Queen Mary University London:
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
45 2 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
Bone Marrow Failure laboratory, Queen Mary University London pathogenic likely pathogenic
pathogenic 0 2
uncertain significance 1 1

Submitter to submitter summary #

Total submitters: 3
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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
Invitae 0 2 0 1 0 0 1 2
GeneDx 0 2 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016222.4(DDX41):c.3G>A (p.Met1Ile) rs141601766 0.00012
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001

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