ClinVar Miner

Variants in gene LMBRD1

Minimum submission review status: Collection method:
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Gene type:
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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
30 32 156 276 54 3 522

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Methylmalonic aciduria and homocystinuria type cblF 30 29 110 249 25 2 431
not provided 2 1 16 24 31 0 71
Inborn genetic diseases 1 0 55 0 0 0 56
not specified 0 0 2 15 7 0 23
Disorders of Intracellular Cobalamin Metabolism 0 0 5 2 0 1 8
LMBRD1-related disorder 1 1 0 5 0 0 7
Cobalamin C disease 3 3 0 0 0 0 6
Donnai-Barrow syndrome 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 30
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 26 18 85 245 20 0 394
GeneDx 1 1 8 32 38 0 80
Ambry Genetics 1 0 55 0 0 0 56
Illumina Laboratory Services, Illumina 1 0 31 5 9 0 46
Fulgent Genetics, Fulgent Genetics 3 12 2 3 0 0 20
Breakthrough Genomics, Breakthrough Genomics 0 0 3 8 0 0 11
PreventionGenetics, part of Exact Sciences 1 1 0 7 1 0 10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 3 2 1 0 0 9
Revvity Omics, Revvity 2 2 3 0 0 0 7
Baylor Genetics 2 0 3 0 0 0 5
OMIM 3 0 0 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 1 0 2 0 3
CeGaT Center for Human Genetics Tuebingen 1 0 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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