ClinVar Miner

Variants studied for 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
59 42 96 79 16 29 250

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 55 37 87 65 11 27 217
ADA, LOC107303343 4 5 9 14 5 2 33

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 40 12 48 72 9 0 181
Counsyl 5 24 18 0 0 0 47
Natera, Inc. 8 2 17 7 6 0 40
Illumina Clinical Services Laboratory,Illumina 0 1 26 5 8 0 40
UniProtKB/Swiss-Prot 0 0 0 0 0 29 29
OMIM 24 0 1 0 0 0 25
Fulgent Genetics,Fulgent Genetics 2 1 1 0 0 0 4
Myriad Women's Health, Inc. 0 4 0 0 0 0 4
Baylor Genetics 3 0 0 0 0 0 3
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
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 Institute Rare Disease Group, Broad Institute 1 0 0 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1

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