Variants studied for Hyper-IgM syndrome type 2

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
20	14	115	66	21	225

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
AICDA	19	14	115	66	21	224
AICDA, CLEC4D, CLEC4E, CLEC6A	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	14	5	77	59	10	165
Illumina Laboratory Services, Illumina	0	0	35	8	13	56
OMIM	9	0	0	0	0	9
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	0	1	3	4
Genome-Nilou Lab	0	0	0	0	4	4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	2	0	0	0	3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	3	0	0	0	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	2	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	2
New York Genome Center	0	0	2	0	0	2
3billion	1	1	0	0	0	2
Mendelics	0	1	0	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Hadassah Hebrew University Medical Center	0	1	0	0	0	1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	0	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	1

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