Variants studied for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

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
24	9	81	58	29	1	199

Gene and significance breakdown #

Total genes and gene combinations: 7

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
MAGT1	22	8	63	47	21	1	159
LOC130068460, MAGT1	1	1	13	11	8	0	34
ATP7A, COX7B, MAGT1, PGAM4	1	0	1	0	0	0	2
ATP7A, ATRX, COX7B, MAGT1, PGAM4, PGK1	0	0	1	0	0	0	1
ATP7A, COX7B, MAGT1, PGAM4, PGK1	0	0	1	0	0	0	1
ATRX, MAGT1	0	0	1	0	0	0	1
COX7B, MAGT1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 14

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	14	5	79	57	29	0	184
OMIM	7	0	0	0	0	0	7
Center for Molecular Medicine, Children’s Hospital of Fudan University	2	2	0	0	0	0	4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	1	0	1	0	0	0	2
Mendelics	0	0	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	0	1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	1	0	0	0	0	0	1
Center for Human Genetics, University of Leuven	1	0	0	0	0	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	1	0	0	0	0	0	1
3billion	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Department of Human Genetics, Hannover Medical School	0	1	0	0	0	0	1

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