ClinVar Miner

Variants in gene LBR

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
29 13 256 138 58 1 428

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 11 7 155 127 57 0 333
Greenberg dysplasia 9 2 72 6 14 0 102
Inborn genetic diseases 0 0 54 6 0 0 60
LBR-related disorder 0 3 2 13 3 0 21
Connective tissue disorder 0 0 11 1 4 0 16
Pelger-Huët anomaly 8 2 3 0 3 0 15
not specified 0 0 4 0 8 0 12
Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia 1 0 6 2 0 0 9
RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY 6 0 0 0 0 0 6
Reynolds syndrome 1 1 1 0 3 0 5
Greenberg dysplasia; Regressive spondylometaphyseal dysplasia 0 0 3 0 0 0 3
Regressive spondylometaphyseal dysplasia 1 1 1 0 0 0 3
Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia 2 0 0 0 0 0 2
Jeune thoracic dystrophy 2 2 0 0 0 0 2
Pelger-Huët anomaly; Greenberg dysplasia; Regressive spondylometaphyseal dysplasia 0 0 0 0 0 1 1
RHIZOMELIC SKELETAL DYSPLASIA WITHOUT PELGER-HUET ANOMALY 1 0 0 0 0 0 1
Retrognathia; Femoral bowing; Disproportionate short stature; Rhizomelic arm shortening; Rhizomelic leg shortening; Short long bone 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 9 4 133 97 30 0 273
Illumina Laboratory Services, Illumina 0 1 69 6 14 0 90
GeneDx 1 3 13 25 29 0 71
Ambry Genetics 0 0 54 6 0 0 60
Breakthrough Genomics, Breakthrough Genomics 0 0 2 9 20 0 31
PreventionGenetics, part of Exact Sciences 0 2 2 13 7 0 24
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 9 7 7 0 23
OMIM 20 0 0 0 0 0 20
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 11 1 4 0 16
Athena Diagnostics 0 0 3 0 11 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 6 3 2 0 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 6 0 0 0 6
Fulgent Genetics, Fulgent Genetics 0 0 2 2 0 0 4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 0 3 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 1 1 1 0 0 0 3
New York Genome Center 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Baylor Genetics 0 1 1 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 2 0 0 0 2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 2 0 0 0 0 0 2
Dan Cohn Lab, University Of California Los Angeles 2 0 0 0 0 0 2
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 1 0 0 0 0 0 1
DASA 0 1 0 0 0 0 1

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