ClinVar Miner

Variants with conflicting interpretations studied for Coffin-Siris syndrome

Coded as:
Minimum review status of the submission for Coffin-Siris syndrome: Y axis collection method of the submission for Coffin-Siris syndrome:
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
15 41 0 32 17 0 0 48

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
Coffin-Siris syndrome uncertain significance likely benign benign
uncertain significance 0 10 2
likely benign 7 0 23
benign 0 9 0

Condition to condition summary #

Total conditions: 6
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
Rhabdoid tumor predisposition syndrome 2 0 21 0 21 12 0 0 33
not specified 0 28 0 17 4 0 0 21
Hereditary cancer-predisposing syndrome 0 31 0 6 12 0 0 18
not provided 0 3 0 4 0 0 0 4
Craniopharyngioma 0 0 0 0 1 0 0 1
Rhabdoid tumor predisposition syndrome 1 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_001128849.1(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368
NM_001128849.1(SMARCA4):c.1099C>T (p.Leu367=) rs372379166
NM_001128849.1(SMARCA4):c.1104G>A (p.Gln368=) rs751242644
NM_001128849.1(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.1(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_001128849.1(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.1(SMARCA4):c.1419+7T>C rs112977340
NM_001128849.1(SMARCA4):c.1419+8C>T rs115492175
NM_001128849.1(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.1(SMARCA4):c.147G>A (p.Pro49=) rs758438795
NM_001128849.1(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.1(SMARCA4):c.1557C>T (p.Asn519=) rs2288845
NM_001128849.1(SMARCA4):c.1740A>G (p.Lys580=) rs114391904
NM_001128849.1(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.1(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.1(SMARCA4):c.222+14T>C rs112825147
NM_001128849.1(SMARCA4):c.223-5C>T rs376775933
NM_001128849.1(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.1(SMARCA4):c.2565C>T (p.Val855=) rs775610559
NM_001128849.1(SMARCA4):c.2757C>T (p.Pro919=) rs113955216
NM_001128849.1(SMARCA4):c.2832C>T (p.Asn944=) rs764939990
NM_001128849.1(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.1(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403
NM_001128849.1(SMARCA4):c.355+9C>T rs767575401
NM_001128849.1(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581
NM_001128849.1(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231
NM_001128849.1(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359
NM_001128849.1(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376
NM_001128849.1(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534
NM_001128849.1(SMARCA4):c.4171-9T>A rs201309716
NM_001128849.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962
NM_001128849.1(SMARCA4):c.4368G>A (p.Pro1456=) rs114882905
NM_001128849.1(SMARCA4):c.4389C>T (p.Arg1463=) rs149670457
NM_001128849.1(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_001128849.1(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.1(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_001128849.1(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.1(SMARCA4):c.4731+12G>A rs34930626
NM_001128849.1(SMARCA4):c.4968G>A (p.Pro1656=) rs182644267
NM_001128849.1(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.1(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711
NM_001128849.1(SMARCA4):c.747C>T (p.Tyr249=) rs756224211
NM_001128849.1(SMARCA4):c.859+7T>A rs141461778
NM_001128849.1(SMARCA4):c.915G>A (p.Pro305=) rs149573400
NM_001128849.1(SMARCA4):c.930C>A (p.Arg310=) rs146141457
NM_001128849.1(SMARCA4):c.981A>C (p.Pro327=) rs547268941
NM_003073.4(SMARCB1):c.362+7C>T rs34746244
NM_003073.4(SMARCB1):c.723C>T (p.Ile241=) rs752910574

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