ClinVar Miner

Variants studied for Immunodeficiency

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 total
3 2 379 226 32 642

Gene and significance breakdown #

Total genes and gene combinations: 12
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NFAT5 0 0 371 226 32 629
C8G 0 0 2 0 0 2
CD27 2 0 0 0 0 2
AARS1, AP1G1, ATXN1L, CALB2, CDH1, CDH3, CHST4, CHTF8, CLEC18A, CLEC18C, CMTR2, COG4, COG8, CYB5B, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FCSK, HAS3, HP, HPR, HYDIN, IL34, IST1, LOC400541, MARVELD3, MIR140, MTSS2, NFAT5, NIP7, NOB1, NQO1, PDF, PDPR, PHLPP2, PKD1L3, SF3B3, SNTB2, ST3GAL2, TANGO6, TAT, TERF2, TMED6, TXNL4B, UTP4, VAC14, VPS4A, WWP2, ZNF19, ZNF23, ZNF821 0 0 1 0 0 1
AARS1, AP1G1, ATXN1L, CALB2, CHST4, CLEC18A, CLEC18C, CMTR2, COG4, DDX19A, DDX19B, DHODH, DHX38, EXOSC6, FCSK, HP, HPR, HYDIN, IL34, IST1, LOC400541, MARVELD3, MIR140, MTSS2, NFAT5, NOB1, NQO1, PDPR, PHLPP2, PKD1L3, SF3B3, ST3GAL2, TAT, TXNL4B, VAC14, WWP2, ZNF19, ZNF23, ZNF821 0 0 1 0 0 1
CCDC8 0 0 1 0 0 1
EFL1 0 0 1 0 0 1
MR1 1 0 0 0 0 1
RAG2 0 1 0 0 0 1
RTEL1, RTEL1-TNFRSF6B 0 0 1 0 0 1
SASH3 0 0 1 0 0 1
UNC93B1 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 9
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 0 0 373 226 32 631
NIHR Bioresource Rare Diseases, University of Cambridge 2 0 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 0 2 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 0 0 1
Rossjohn lab, Monash University 1 0 0 0 0 1

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