ClinVar Miner

Variants studied for Severe combined immunodeficiency due to ADA deficiency

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
40 36 79 36 15 29 184

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ADA 37 32 71 30 11 27 162
ADA, LOC107303343 3 4 8 6 4 2 22

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 26 11 39 30 9 0 115
Counsyl 5 24 18 0 0 0 47
Illumina Clinical Services Laboratory,Illumina 0 1 26 5 8 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 29 29
OMIM 16 0 1 0 0 0 17
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 2 0 0 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 2
Mendelics 0 0 0 0 2 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 2 0 0 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 2 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
Baylor Genetics 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

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