ClinVar Miner

Variants with conflicting interpretations studied for Rhabdoid tumor predisposition syndrome 2

Coded as:
Minimum review status of the submission for Rhabdoid tumor predisposition syndrome 2: Y axis collection method of the submission for Rhabdoid tumor predisposition syndrome 2:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
628 253 0 6 30 0 2 36

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.

All conditions
Rhabdoid tumor predisposition syndrome 2 likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 0
uncertain significance 1 0 26 0
likely benign 0 4 0 2
benign 0 0 4 0

Condition to condition summary #

Total conditions: 5
Download table as spreadsheet
Condition 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
Hereditary cancer-predisposing syndrome 0 243 0 0 20 0 1 21
not specified 0 15 0 5 6 0 1 12
Coffin-Siris syndrome 0 8 0 1 3 0 0 4
not provided 0 17 0 2 3 0 0 3
Mental retardation, autosomal dominant 16 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 36
Download table as spreadsheet
HGVS dbSNP
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368
NM_001128849.2(SMARCA4):c.1110C>T (p.Arg370=) rs754575023
NM_001128849.2(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.2(SMARCA4):c.1419+4C>T rs370219784
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.144G>T (p.Gly48=) rs1398193826
NM_001128849.2(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.2(SMARCA4):c.1695G>A (p.Thr565=) rs1173206989
NM_001128849.2(SMARCA4):c.2157C>T (p.Gly719=) rs756240718
NM_001128849.2(SMARCA4):c.2617-5C>T rs377743250
NM_001128849.2(SMARCA4):c.303G>T (p.Gly101=) rs1170894634
NM_001128849.2(SMARCA4):c.3081+5G>A rs771818383
NM_001128849.2(SMARCA4):c.3090C>T (p.Gly1030=) rs778603170
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val)
NM_001128849.2(SMARCA4):c.372G>A (p.Leu124=) rs780881662
NM_001128849.2(SMARCA4):c.3775-4A>G rs926233307
NM_001128849.2(SMARCA4):c.3951+6C>T rs759241380
NM_001128849.2(SMARCA4):c.4187A>T (p.Asp1396Val) rs186823009
NM_001128849.2(SMARCA4):c.4211T>G (p.Val1404Gly) rs200469979
NM_001128849.2(SMARCA4):c.4227A>G (p.Gln1409=) rs909983958
NM_001128849.2(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962
NM_001128849.2(SMARCA4):c.4281C>T (p.Gly1427=) rs889180299
NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.2(SMARCA4):c.4839C>T (p.Gly1613=) rs759862377
NM_001128849.2(SMARCA4):c.489G>T (p.Gly163=) rs1201612670
NM_001128849.2(SMARCA4):c.4930G>A (p.Gly1644Ser) rs372319442
NM_001128849.2(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711
NM_001128849.2(SMARCA4):c.696T>C (p.Pro232=) rs573767517
NM_001128849.2(SMARCA4):c.715G>A (p.Gly239Ser) rs761515593
NM_001128849.2(SMARCA4):c.720G>A (p.Pro240=) rs1023059961
NM_001128849.2(SMARCA4):c.729C>T (p.Gly243=) rs1031885122
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001128849.2(SMARCA4):c.801C>T (p.Gly267=) rs539124305
NM_001128849.2(SMARCA4):c.96G>A (p.Pro32=) rs761597013
NM_003072.4(SMARCA4):c.3873+6del rs751936459

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