ClinVar Miner

Variants from Department of Biochemistry, Faculty of Medicine, University of Khartoum with conflicting interpretations

Location: Sudan  Primary collection method: research
Minimum review status of the submission from Department of Biochemistry, Faculty of Medicine, University of Khartoum: Collection method of the submission from Department of Biochemistry, Faculty of Medicine, University of Khartoum:
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
20 6 0 2 0 0 3 5

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
Department of Biochemistry, Faculty of Medicine, University of Khartoum likely pathogenic uncertain significance
pathogenic 2 2
likely pathogenic 0 1

Submitter to submitter summary #

Total submitters: 7
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
Counsyl 0 0 0 1 0 0 0 1
Labcorp Genetics (formerly Invitae), Labcorp 0 6 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_000124.4(ERCC6):c.4063-1G>C rs766980240 0.00002
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824

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