ClinVar Miner

Variants studied for Immunodeficiency 35

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
28 13 446 372 50 1 873

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
TYK2 27 13 445 372 50 1 871
AP1M2, ATG4D, CDC37, CDKN2D, DNM2, ILF3, KEAP1, KRI1, MIR199A1, PDE4A, QTRT1, S1PR5, SLC44A2, TYK2 0 0 1 0 0 0 1
CDC37, DNMT1, FDX2, ICAM1, ICAM3, ICAM4, ICAM5, KEAP1, MRPL4, PDE4A, RAVER1, S1PR2, TYK2, ZGLP1 1 0 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 not provided total
Labcorp Genetics (formerly Invitae), Labcorp 18 9 379 364 40 0 810
Illumina Laboratory Services, Illumina 0 0 86 9 30 0 125
OMIM 12 0 0 0 0 0 12
Revvity Omics, Revvity 0 0 9 0 0 0 9
Baylor Genetics 0 0 8 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 4 1 0 0 5
Genome-Nilou Lab 0 0 0 0 5 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 1 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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