Variants studied for Rhabdoid tumor predisposition syndrome 2

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)
		ClinVar version:

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	total
119	51	2031	2250	115	4549

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
SMARCA4	118	51	2028	2250	115	4545
LOC130063552, LOC130063553, LOC130063554, LOC130063555, SMARCA4	1	0	1	0	0	2
SMARCB1	0	0	2	0	0	2

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	109	43	2006	2245	115	4518
Baylor Genetics	2	6	125	0	0	133
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	2	0	14	2	0	18
Mendelics	2	0	2	4	1	9
OMIM	6	0	0	0	0	6
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	5	0	0	5
Genetic Services Laboratory, University of Chicago	3	0	0	0	0	3
Illumina Laboratory Services, Illumina	0	1	0	0	0	1
Donald Williams Parsons Laboratory, Baylor College of Medicine	1	0	0	0	0	1
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	0	1	0	0	0	1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana	0	1	0	0	0	1
Cancer Genomics Laboratory, Texas Children's Hospital	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	1

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