Variants studied for agammaglobulinemia 4, autosomal recessive

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	total
6	4	121	133	20	282

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	total
BLNK	4	4	84	97	16	203
BLNK, ZNF518A	2	0	36	36	4	78
ALDH18A1, BLNK, C10orf131, CC2D2B, CCNJ, ENTPD1, TCTN3, ZNF518A	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 11

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Labcorp Genetics (formerly Invitae), Labcorp	5	2	120	132	18	277
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	4	5
Genome-Nilou Lab	0	0	0	0	3	3
Baylor Genetics	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	1	1	0	2
OMIM	1	0	0	0	0	1
Revvity Omics, Revvity	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	0	0	1	1
New York Genome Center	0	0	1	0	0	1

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