ClinVar Miner

Variants studied for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Included ClinVar conditions (2):
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
107 110 164 320 24 29 642

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADA 93 97 133 249 14 27 510
ADA, LOC107303343 12 12 31 71 10 2 129
ACOT8, ADA, CCN5, CD40, CDH22, CTSA, DBNDD2, DNTTIP1, ELMO2, EPPIN, EPPIN-WFDC6, FITM2, GDAP1L1, GTSF1L, HNF4A, IFT52, JPH2, KCNK15, KCNS1, MATN4, MMP9, MYBL2, NCOA5, NEURL2, OCSTAMP, OSER1, PABPC1L, PCIF1, PI3, PIGT, PKIG, PLTP, R3HDML, RBPJL, RIMS4, SDC4, SEMG1, SEMG2, SERINC3, SLC12A5, SLC13A3, SLC2A10, SLC35C2, SLPI, SNX21, SPATA25, SPINT3, SPINT4, STK4, SYS1, TNNC2, TOMM34, TOX2, TP53RK, TP53TG5, TTPAL, UBE2C, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YWHAB, ZNF334, ZNF335, ZNF840P, ZSWIM1, ZSWIM3 1 0 0 0 0 0 1
ADA, LOC107303343, LOC108167311, LOC108167312 1 0 0 0 0 0 1
JAK3 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 33
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 88 30 108 311 16 0 553
Baylor Genetics 34 45 1 0 0 0 80
Natera, Inc. 16 6 40 11 7 0 80
Genome-Nilou Lab 27 14 14 7 12 0 74
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen 10 13 27 3 3 0 56
Counsyl 4 24 18 0 0 0 46
Illumina Laboratory Services, Illumina 0 1 26 5 8 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 29 29
OMIM 25 0 1 0 0 0 26
Myriad Genetics, Inc. 1 17 0 0 0 0 18
Fulgent Genetics, Fulgent Genetics 4 2 6 1 1 0 14
Revvity Omics, Revvity 5 4 4 0 0 0 13
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 5 0 0 0 6
Neuberg Centre For Genomic Medicine, NCGM 2 1 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Mendelics 0 1 0 0 2 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 1 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 0 0 2
Laboratory of Pediatric Immunoinfectivology, Tor Vergata University 2 0 0 0 0 0 2
Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Ege University Pediatric Genetics, Ege University 0 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 1 0 0 0 0 0 1
Genomics Facility, Ludwig-Maximilians-Universität München 1 0 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1
3billion 0 1 0 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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