ClinVar Miner

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

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
5 10 0 5 1 0 6 12

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 likely pathogenic uncertain significance likely benign
pathogenic 0 4 2 0
likely pathogenic 1 0 0 0
uncertain significance 3 1 0 1

All variants with conflicting interpretations #

Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter) rs1184563885
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000426.3(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_144696.6(AXDND1):c.3032-21A>T rs775006954

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