ClinVar Miner

Variants in gene SMARCA4 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
2394 27 0 21 9 0 0 29

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 1 0 0 0
likely pathogenic 1 0 0 0 0
uncertain significance 0 0 0 9 1
likely benign 0 0 9 0 20
benign 0 0 1 20 0

All variants with conflicting interpretations #

Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.1140C>T (p.His380=) rs114594206
NM_001128849.2(SMARCA4):c.1287G>A (p.Ala429=) rs143600641
NM_001128849.2(SMARCA4):c.1358C>T (p.Thr453Ile) rs1057518862
NM_001128849.2(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.2(SMARCA4):c.1419+7T>C rs112977340
NM_001128849.2(SMARCA4):c.1419+8C>T rs115492175
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.2(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.2(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.2(SMARCA4):c.223-5C>T rs376775933
NM_001128849.2(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282
NM_001128849.2(SMARCA4):c.2850C>T (p.Thr950=) rs141259126
NM_001128849.2(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.2(SMARCA4):c.3168+31C>G rs2075021
NM_001128849.2(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_001128849.2(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359
NM_001128849.2(SMARCA4):c.4284G>T (p.Thr1428=) rs199847974
NM_001128849.2(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.2(SMARCA4):c.4731+12G>A rs34930626
NM_001128849.2(SMARCA4):c.4864+10G>A rs201665695
NM_001128849.2(SMARCA4):c.4864+15G>C rs113131294
NM_001128849.2(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001128849.2(SMARCA4):c.915G>A (p.Pro305=) rs149573400
NM_001128849.2(SMARCA4):c.981A>C (p.Pro327=) rs547268941

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