ClinVar Miner

Variants studied for Hyper-IgM syndrome type 2

Coded as:
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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
23 14 115 66 21 228

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
AICDA 21 14 115 66 21 226
AICDA, CLEC4D, CLEC4E, CLEC6A 1 0 0 0 0 1
TNFRSF13B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 16 5 77 59 10 167
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
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 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
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1

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