Variants studied for Rubinstein-Taybi syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
138	18	430	763	282	2	1630

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
CREBBP	128	18	421	753	276	2	1595
CREBBP, LOC130058357	2	0	4	6	2	0	14
CREBBP, LOC130058353	1	0	1	4	4	0	10
ADCY9, CREBBP, GLIS2, SRL, TFAP4	1	0	1	0	0	0	2
CREBBP, TRAP1	2	0	0	0	0	0	2
EP300	0	0	2	0	0	0	2
ADCY9, ALG1, ANKS3, C16orf89, C16orf90, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, GLIS2, GLYR1, HMOX2, IFT38, MEFV, MGRN1, MTRNR2L4, NAA60, NAGPA, NLRC3, NMRAL1, NUDT16L1, OR2C1, PAM16, PPL, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, TIGD7, TRAP1, UBALD1, UBN1, VASN, ZNF174, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN32	0	0	1	0	0	0	1
ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, GLIS2, HMOX2, LINC01569, LOC105371062, LOC112441450, LOC113939951, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC129390755, LOC129390756, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, TRIDDENT, UBALD1, VASN, ZNF500	1	0	0	0	0	0	1
C16orf90, CREBBP, DNASE1, IFT38, MEFV, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF263, ZNF597, ZNF75A, ZSCAN32	1	0	0	0	0	0	1
CREBBP, LOC130058353, LOC130058354, LOC130058355	1	0	0	0	0	0	1
EP300, LOC126863158	1	0	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 7

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	136	18	424	763	282	0	1623
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	6	1	0	0	7
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	2	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	0	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	0	0	0	0	0	1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	1	0	0	0	0	0	1

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