ClinVar Miner

Variants in gene combination LRBA, MAB21L2

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Minimum submission review status: Collection method:
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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
10 6 16 10 5 43

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 0 1 7 10 5 23
Colobomatous microphthalmia-rhizomelic dysplasia syndrome 6 5 4 0 0 11
Combined immunodeficiency due to LRBA deficiency 4 0 1 0 0 5
Inborn genetic diseases 0 0 4 0 0 4
not specified 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 3 0 3 10 2 18
GeneDx 0 1 2 0 3 6
OMIM 5 0 0 0 0 5
Ambry Genetics 0 0 4 0 0 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 4 0 0 0 4
Bionano Laboratories 0 0 2 0 0 2
Genetics Department, University Hospital of Toulouse 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 0 1 0 0 1

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