Variants studied for autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

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
2	2	105	89	14	1	211

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PLCG2	2	2	105	89	14	1	211

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	0	0	87	89	1	0	177
Genome-Nilou Lab	0	0	0	0	13	0	13
Baylor Genetics	0	0	9	0	0	0	9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	7	0	0	0	7
OMIM	2	0	0	0	0	0	2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	2	0	0	0	2
Centogene AG - the Rare Disease Company	0	0	1	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	0	0	1	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine	0	0	1	0	0	0	1
Dept of laboratory medicine, Chungbuk National University Hospital	0	1	0	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	0	1	0	0	0	1

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