ClinVar Miner

Variants studied for immunodeficiency 35

Included ClinVar conditions (1):
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 11 445 372 50 1 870

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 11 444 372 50 1 868
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: 14
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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
New York Genome Center 0 0 1 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 1

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