ClinVar Miner

Variants in gene BTK

Minimum submission review status: Collection method:
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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
106 35 40 7 11 1 189

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
X-linked agammaglobulinemia 58 16 5 5 5 0 88
X-linked agammaglobulinemia with growth hormone deficiency 28 2 26 0 5 0 61
not provided 19 14 6 1 1 0 41
Agammaglobulinemia, non-Bruton type 17 0 1 0 0 0 18
Isolated Growth Hormone Deficiency 0 0 3 5 5 0 13
not specified 1 0 2 3 3 0 9
Neoplasm of the breast 0 2 0 0 0 0 2
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 0 1 1 0 0 0 2
Agammaglobulinemia 0 1 0 0 0 0 1
Chronic lymphocytic leukemia 0 0 0 0 0 1 1
Hypogammaglobulinemia, X-linked 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 17
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 25 2 26 0 5 0 58
OMIM 56 0 0 0 0 0 56
GeneDx 19 11 2 1 2 0 35
Integrated Genetics/Laboratory Corporation of America 7 16 5 0 1 0 29
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 17 0 1 0 0 0 18
Illumina Clinical Services Laboratory,Illumina 0 0 3 5 5 0 13
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 0 2 2 1 0 5
Blueprint Genetics, 0 3 1 0 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 2 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 2 0 0 3
Database of Curated Mutations (DoCM) 0 3 0 0 0 1 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
PreventionGenetics 0 0 0 0 1 0 1
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 0 0 1
Routes Lab,Medical College of Wisconsin 1 0 0 0 0 0 1

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