Variants studied for Aicardi-Goutieres syndrome 6

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
15	16	48	13	15	2	97

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
ADAR	10	13	44	10	13	2	83
ADAR, LOC126805874	5	3	3	3	1	0	12
ADAR, LOC129931512	0	0	1	0	1	0	2

Submitter and significance breakdown #

Total submitters: 24

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Genome-Nilou Lab	2	3	43	13	15	0	76
OMIM	10	0	0	0	0	0	10
ClinVar Staff, National Center for Biotechnology Information (NCBI)	0	8	0	0	0	0	8
Baylor Genetics	3	0	3	0	0	0	6
Genomics England Pilot Project, Genomics England	2	3	0	0	0	0	5
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	2	1	0	0	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	1	0	2	0	0	0	3
GeneReviews	0	0	0	0	0	2	2
Suma Genomics, Suma Genomics	1	1	0	0	0	0	2
Institute of Human Genetics, Cologne University	0	1	0	0	0	0	1
MGZ Medical Genetics Center	0	1	0	0	0	0	1
Institute of Medical Molecular Genetics, University of Zurich	1	0	0	0	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	1	0	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	0	1	0	0	0	1
Wangler Lab, Baylor College of Medicine	1	0	0	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	1	0	0	0	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	1	0	0	0	0	0	1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	1	0	0	0	0	0	1
New York Genome Center	0	0	1	0	0	0	1
3billion	1	0	0	0	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	1	0	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	0	1
MVZ Medizinische Genetik Mainz	0	1	0	0	0	0	1

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