Variants studied for Rothmund-Thomson syndrome type 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
16	6	80	24	40	161

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
RECQL4	15	6	75	24	38	153
LOC130001411, RECQL4	0	0	4	0	2	6
intergenic	1	0	1	0	0	2

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
KCCC/NGS Laboratory, Kuwait Cancer Control Center	0	0	0	24	34	58
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	3	1	44	0	0	48
Baylor Genetics	0	0	34	0	0	34
Genome-Nilou Lab	0	0	0	0	12	12
OMIM	9	0	0	0	0	9
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	2	0	1	4
Department of Pediatrics, Memorial Sloan Kettering Cancer Center	2	2	0	0	0	4
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	1	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	1	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	1	0	0	0	0	1
3billion	1	0	0	0	0	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	1	0	0	0	1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center	0	0	1	0	0	1

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