ClinVar Miner

Variants with conflicting interpretations between Department of Genetics,Sultan Qaboos University Hospital, Oman and Invitae

Minimum review status of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman: Collection method of the submission from Department of Genetics,Sultan Qaboos University Hospital, Oman:
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
43 21 0 3 2 0 11 16

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.

pathogenic uncertain significance likely benign benign
pathogenic 0 3 0 0
likely pathogenic 3 1 0 1
uncertain significance 6 0 1 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) rs398123505
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001918.4(DBT):c.75_76del (p.Cys26fs) rs768832921
NM_002693.3(POLG):c.3286C>T rs201732356
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_153033.4(KCTD7):c.335G>A (p.Arg112His) rs774026720

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.