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
11 8 124 38 49 210

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Common variable immunodeficiency 8, with autoimmunity 10 1 80 19 40 147
not provided 0 6 49 10 3 64
not specified 1 1 6 12 13 29
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 5 0 74 18 38 135
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 26 7 5 39
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 2 8 5 3 19
Blueprint Genetics, 0 1 15 0 0 16
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 5 4 0 11
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 7 8
GeneDx 0 1 4 2 1 8
OMIM 5 0 0 0 0 5
Genetic Services Laboratory, University of Chicago 0 0 2 1 0 3
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 3 0 0 3
Fulgent Genetics 0 0 3 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 2 0 0 3
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 1 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 2 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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, Inc. 0 0 1 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

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