ClinVar Miner

Variants in gene MED13L 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
1216 33 0 28 5 0 3 36

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 2 0 0
uncertain significance 1 2 0 3 2
likely benign 0 0 3 0 25
benign 0 0 2 25 0

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu) rs143602183 0.00044
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr) rs146112707 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile) rs142907547 0.00035
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu) rs186297695 0.00034
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00023
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser) rs150339628 0.00023
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu) rs537593859 0.00015
NM_015335.5(MED13L):c.656C>T (p.Thr219Met) rs191743300 0.00010
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly) rs201414612 0.00008
NM_015335.5(MED13L):c.5768C>T (p.Thr1923Ile) rs149651647 0.00008
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His) rs142574863 0.00003
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015335.5(MED13L):c.5588+1G>A rs1135401810

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