Variants studied for Nijmegen breakage syndrome-like disorder

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	not provided	total
49	78	204	41	20	11	366

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	not provided	total
RAD50	41	67	160	38	18	9	301
RAD50, TH2-LCR, TH2LCRR	7	10	24	1	0	2	41
RAD50, TH2LCRR	1	1	20	2	2	0	24

Submitter and significance breakdown #

Total submitters: 26

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Baylor Genetics	22	59	132	0	0	0	213
Sema4, Sema4	3	7	45	27	8	0	90
Fulgent Genetics, Fulgent Genetics	8	5	37	2	0	0	52
Counsyl	2	7	10	13	11	0	43
Revvity Omics, Revvity	23	3	8	0	0	0	34
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	10	10
Mendelics	0	0	1	3	1	0	5
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	1	2	0	0	0	4
OMIM	3	0	0	0	0	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	2	0	0	0	0	2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	2	0	0	0	0	0	2
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	0	2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	1	0	0	0	0	0	1
Genetic Services Laboratory, University of Chicago	1	0	0	0	0	0	1
Institute of Human Genetics, University of Goettingen	0	1	0	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	1	0	1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	0	0	1	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
Genome Diagnostics Laboratory, Amsterdam University Medical Center	0	0	0	1	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	0	0	0	1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University	0	0	0	0	1	0	1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	1	0	0	0	1
DASA	1	0	0	0	0	0	1

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