ClinVar Miner

Variants with conflicting interpretations studied for Rubinstein-Taybi syndrome 1

Coded as:
Minimum review status of the submission for Rubinstein-Taybi syndrome 1: Y axis collection method of the submission for Rubinstein-Taybi syndrome 1:
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
233 37 0 27 14 0 3 43

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
Rubinstein-Taybi syndrome 1 pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 1 0 1 1
likely pathogenic 1 0 2 0 0
uncertain significance 0 1 0 5 3
likely benign 0 0 7 0 23
benign 0 0 2 2 0

Condition to condition summary #

Total conditions: 7
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
not specified 0 30 0 20 5 0 1 26
Carcinoma of colon; Rubinstein-Taybi syndrome 2 0 3 0 11 0 0 0 11
not provided 0 11 0 4 5 0 2 10
History of neurodevelopmental disorder 0 13 0 1 4 0 1 5
Rubinstein-Taybi syndrome 2 0 0 0 0 3 0 0 3
Rubinstein-Taybi syndrome 1 309 2 0 0 1 0 1 2
Menke-Hennekam syndrome 1 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 43
Download table as spreadsheet
HGVS dbSNP
NM_001079846.1(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1618C>T (p.Pro540Ser) rs148023511
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2697G>A (p.Pro899=) rs146168040
NM_001079846.1(CREBBP):c.3386A>G (p.Tyr1129Cys) rs587783481
NM_001079846.1(CREBBP):c.3584+7G>A rs374345970
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001079846.1(CREBBP):c.5500A>G (p.Met1834Val) rs797045037
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.5686T>C (p.Ser1896Pro) rs587783504
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016
NM_001429.3(EP300):c.3143-4delT rs757931697
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.1283-8T>C rs76827562
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5061+9C>T rs73176628
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553

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