ClinVar Miner

Variants in gene SMARCB1 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
192 32 0 7 8 0 2 16

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 2 2 0 0
likely pathogenic 2 0 0 0 0
uncertain significance 2 0 0 7 2
likely benign 0 0 7 0 5
benign 0 0 2 5 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748
NM_003073.5(SMARCB1):c.1085_1087AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210
NM_003073.5(SMARCB1):c.1149G>A (p.Pro383=) rs780103418
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968
NM_003073.5(SMARCB1):c.362+7C>T rs34746244
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.987-4G>A rs745773662
NM_003073.5(SMARCB1):c.987-5C>T rs781136700

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