Variants studied for Immunodeficiency 23

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
56	19	160	291	14	1	527

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
PGM3	48	16	133	256	10	1	453
DOP1A, PGM3	6	3	27	35	4	0	72
DOP1A, ME1, PGM3, PRSS35, RWDD2A, SNAP91, TPBG, UBE3D	1	0	0	0	0	0	1
ME1, PGM3, RWDD2A	1	0	0	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
Labcorp Genetics (formerly Invitae), Labcorp	45	6	153	290	14	0	508
Fulgent Genetics, Fulgent Genetics	0	10	3	1	0	0	14
OMIM	11	0	0	0	0	0	11
Revvity Omics, Revvity	2	2	3	0	0	0	7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	5	0	0	0	0	0	5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	5	0	0	0	5
Baylor Genetics	0	0	4	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	0	1	2	0	0	0	3
Juno Genomics, Hangzhou Juno Genomics, Inc	0	0	2	0	0	0	2
New York Genome Center	0	1	1	0	0	0	2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	0	0	0	1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	1	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1
Molecular Genetics, Royal Melbourne Hospital	0	0	1	0	0	0	1

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