ClinVar Miner

Variants in gene BTK

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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
141 55 76 26 17 1 291

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
X-linked agammaglobulinemia with growth hormone deficiency 59 12 62 16 13 0 158
X-linked agammaglobulinemia 64 19 9 5 8 0 104
not provided 27 16 6 9 1 0 59
Autosomal recessive agammaglobulinemia 1 17 0 1 0 0 0 18
not specified 2 2 5 3 4 0 16
Inherited Immunodeficiency Diseases 1 4 0 0 0 0 5
Breast neoplasm 0 2 0 0 0 0 2
X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency 0 1 1 0 0 0 2
none provided 0 0 1 0 1 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
Isolated growth hormone deficiency 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 56 11 52 19 8 0 146
OMIM 56 0 0 0 0 0 56
Integrated Genetics/Laboratory Corporation of America 11 18 8 0 1 0 38
GeneDx 20 11 2 1 2 0 36
Illumina Clinical Services Laboratory,Illumina 0 0 9 4 8 0 19
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 17 0 1 0 0 0 18
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 2 2 1 2 2 0 9
Mendelics 4 1 0 2 0 0 7
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 7 0 0 0 0 0 7
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 2 1 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 1 4 0 0 0 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
Database of Curated Mutations (DoCM) 0 3 0 0 0 1 3
Centogene AG - the Rare Disease Company 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 1 1 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 0 0 0 0 2
Baylor Genetics 0 1 0 0 0 0 1
PreventionGenetics, PreventionGenetics 0 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1
Routes Lab,Medical College of Wisconsin 1 0 0 0 0 0 1

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