ClinVar Miner

Variants in gene LRBA

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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 total
36 27 506 189 70 787

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Common variable immunodeficiency 8, with autoimmunity 31 12 462 149 59 705
not provided 2 12 64 51 4 129
not specified 1 1 6 12 12 29
Inherited Immunodeficiency Diseases 1 1 2 0 0 4
Immunodeficiency 8 1 1 0 0 0 2
Hirschsprung disease 1 0 0 1 0 0 1
Long QT syndrome 0 0 0 1 0 1
See cases 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 24 5 444 167 58 698
CeGaT Praxis fuer Humangenetik Tuebingen 2 7 20 12 0 41
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 1 26 7 5 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 9 6 9 27
Blueprint Genetics 0 1 15 0 0 16
Baylor Genetics 0 0 14 0 0 14
GeneDx 0 2 4 2 1 9
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 7 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 5 0 0 6
UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini 1 0 3 2 0 6
OMIM 5 0 0 0 0 5
Mendelics 1 2 1 0 0 4
NIHR Bioresource Rare Diseases, University of Cambridge 1 1 2 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 1 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 1 1 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 1 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 0 0 2
ARUP Laboratories, Cytogenetics and Genomic Microarray,ARUP Laboratories 0 0 1 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 1 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
New York Genome Center 0 0 1 0 0 1

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