Variants studied for Immunodeficiency 104

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
63	25	521	827	103	4	1503

Gene and significance breakdown #

Total genes and gene combinations: 6

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PTPRC	14	14	311	613	45	4	993
IL7R	48	11	209	214	55	0	505
RAG1	0	0	0	0	2	0	2
CD3D	0	0	0	0	1	0	1
IL7R, LOC129993794	1	0	0	0	0	0	1
RAG2	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 27

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Labcorp Genetics (formerly Invitae), Labcorp	53	17	442	820	72	0	1404
Illumina Laboratory Services, Illumina	0	0	63	7	38	0	108
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen	7	5	9	8	8	0	37
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	10	0	0	0	10
Baylor Genetics	1	0	7	0	0	0	8
OMIM	5	0	2	0	0	0	7
Fulgent Genetics, Fulgent Genetics	2	0	3	1	1	0	7
Genome-Nilou Lab	0	0	0	0	6	0	6
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	4	4
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	0	0	2	0	2	0	4
Revvity Omics, Revvity	1	0	2	0	0	0	3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	0	2	0	0	0	3
Mendelics	0	0	0	0	2	0	2
Department of Molecular and Human Genetics, Baylor College of Medicine	2	0	0	0	0	0	2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	2	0	0	0	0	0	2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	2	0	0	0	0	0	2
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University	1	1	0	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	1	0	0	0	0	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	0	1	0	1
Servicio inmunologia, Hospital 12 de Octubre	1	0	0	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	1	0	0	0	0	0	1
Center for Molecular Medicine, Children’s Hospital of Fudan University	1	0	0	0	0	0	1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	1
3billion	1	0	0	0	0	0	1
DASA	0	1	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	0	0	0	1
Massaad Lab, American University of Beirut	1	0	0	0	0	0	1

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