ClinVar Miner

Variants in gene MYOT with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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 Variants with at least 2 submissions 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 kind of conflict
76 28 1 14 8 0 1 23

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 benign
pathogenic 1 2 1 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 1 0 0 8 1
likely benign 0 0 8 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.2(MYOT):c.1190+7T>C rs192405601
NM_006790.2(MYOT):c.120T>A (p.Ile40=) rs139254363
NM_006790.2(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.1335C>T (p.Asn445=) rs769506328
NM_006790.2(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.2(MYOT):c.17G>A (p.Arg6His) rs387906882
NM_006790.2(MYOT):c.220C>A (p.Gln74Lys) rs6890689
NM_006790.2(MYOT):c.240C>T (p.Asn80=) rs529067126
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) rs199789331
NM_006790.2(MYOT):c.594G>A (p.Val198=)
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006790.2(MYOT):c.630G>A (p.Ser210=) rs375308029
NM_006790.2(MYOT):c.683+8delA rs760217241
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049

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