ClinVar Miner

Variants in gene SMARCB1 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
935 59 0 17 12 0 7 34

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 5 2 1 0
likely pathogenic 5 0 5 0 0
uncertain significance 2 5 0 12 1
likely benign 1 0 12 0 12
benign 0 0 1 12 0

All variants with conflicting interpretations #

Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_003073.5(SMARCB1):c.987C>T (p.Ser329=) rs137942040 0.00041
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604 0.00010
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00006
NM_003073.5(SMARCB1):c.987-4G>A rs745773662 0.00006
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=) rs1049144154 0.00003
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=) rs2145964352
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=) rs751914353
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg) rs763994045
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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