ClinVar Miner

Variants in gene combination MYOT, PKD2L2-DT with conflicting interpretations

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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 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
362 56 0 23 17 0 1 39

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 0 3 1 0 0
likely pathogenic 3 0 0 0 0
uncertain significance 1 0 0 15 6
likely benign 0 0 15 0 20
benign 0 0 6 20 0

All variants with conflicting interpretations #

Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98645
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) rs34717730 0.02506
NM_006790.3(MYOT):c.-251A>G rs6863775 0.01797
NM_006790.3(MYOT):c.*190C>G rs74711051 0.01760
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00363
NM_006790.3(MYOT):c.1190+7T>C rs192405601 0.00311
NM_006790.3(MYOT):c.822T>C (p.Ser274=) rs138678049 0.00195
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) rs71578935 0.00150
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_006790.3(MYOT):c.*404G>A rs188240755 0.00078
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00075
NM_006790.3(MYOT):c.-233C>A rs186433387 0.00069
NM_006790.3(MYOT):c.*463C>T rs149535236 0.00051
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) rs199789331 0.00012
NM_006790.3(MYOT):c.533G>A (p.Arg178His) rs150293853 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00005
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) rs769506328 0.00005
NM_006790.3(MYOT):c.1398T>G (p.Leu466=) rs150033934 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.817-11T>C rs377759571 0.00003
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) rs886059968 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) rs202139846 0.00001
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) rs121908458 0.00001
NM_006790.3(MYOT):c.630G>A (p.Ser210=) rs375308029 0.00001
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) rs121908457
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130

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