ClinVar Miner

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

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
16 23 0 7 0 0 17 24

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 7
uncertain significance 17

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.4(CYP1B1):c.182G>A rs28936700
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000196.4(HSD11B2):c.622C>T (p.Arg208Cys) rs121917780
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_004273.5(CHST3):c.911G>A (p.Arg304Gln) rs28937593
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_013328.4(PYCR2):c.355C>T (p.Arg119Cys) rs372781135
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_015488.5(PNKD):c.20C>T (p.Ala7Val) rs121434512
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_017890.4(VPS13B):c.7934G>A (p.Gly2645Asp) rs120074153
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039
NM_025132.4(WDR19):c.3533G>A (p.Arg1178Gln) rs79436363
NM_133443.4(GPT2):c.815C>T (p.Pro272Leu) rs886038199

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