ClinVar Miner

Variants in gene SMAD3 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 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
496 74 0 9 14 0 6 28

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 4 2 0 0
likely pathogenic 4 0 3 0 0
uncertain significance 3 3 0 14 1
likely benign 0 0 14 0 5
benign 0 0 1 5 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_005902.4(SMAD3):c.1009+7G>A rs772242555
NM_005902.4(SMAD3):c.1010-10T>C rs1179340088
NM_005902.4(SMAD3):c.1010-12T>C rs773629535
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_005902.4(SMAD3):c.207-26869C>A rs958007552
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.401-7C>T rs774268232
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039
NM_005902.4(SMAD3):c.533-13_533-10del
NM_005902.4(SMAD3):c.607+9T>A rs886051380
NM_005902.4(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.657G>C (p.Leu219Phe) rs886038567
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005902.4(SMAD3):c.879C>T (p.Gly293=) rs769683236
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304
Single allele

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