ClinVar Miner

Variants in gene SATB2 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
586 20 0 10 7 1 2 17

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 protective other
pathogenic 0 6 1 0 0 0 0
likely pathogenic 6 0 0 0 0 0 0
uncertain significance 2 1 0 2 6 1 1
likely benign 0 0 1 0 4 0 0
benign 0 0 5 4 0 0 0

All variants with conflicting interpretations #

Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_001172509.2(SATB2):c.1071C>T (p.Ser357=) rs148055910 0.00035
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg) rs1688108689
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His) rs1057518190
NM_001172509.2(SATB2):c.1573G>A (p.Glu525Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.424A>G (p.Met142Val) rs751779659
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
Single allele

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