Variants studied for Hyper-IgM syndrome type 5

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
13	3	131	101	10	1	246

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
UNG	13	2	126	94	10	1	233
LOC130008712, UNG	0	1	3	7	0	0	11
ACACB, UNG	0	0	2	0	0	0	2

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	8	3	92	95	9	0	207
Illumina Laboratory Services, Illumina	0	0	46	4	4	0	54
OMIM	4	0	0	0	0	0	4
Baylor Genetics	0	0	3	0	0	0	3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	0	1	1	1	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	0	0	2	0	0	2
Fulgent Genetics, Fulgent Genetics	0	0	2	0	0	0	2
Revvity Omics, Revvity	0	0	1	0	0	0	1
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	1	0	0	1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin	1	0	0	0	0	0	1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	1	0	0	1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	0	0	1	0	0	0	1
3billion	1	0	0	0	0	0	1
GenomeConnect - Invitae Patient Insights Network	0	0	0	0	0	1	1

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