ClinVar Miner

Variants in gene LMX1B

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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 total
45 11 134 35 79 299

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nail-patella syndrome 33 6 114 14 71 238
not provided 20 4 18 18 8 68
not specified 0 0 0 5 8 13
Focal Segmental Glomerulosclerosis 10 2 0 0 0 0 2
See cases 0 0 1 0 1 2
Early infantile epileptic encephalopathy 4 1 0 0 0 0 1
Inborn genetic diseases 0 0 1 0 0 1
Minimal change glomerulonephritis 0 1 0 0 0 1
Nephrotic syndrome 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 109 14 71 194
Invitae 15 1 18 18 4 56
OMIM 15 0 0 0 0 15
PreventionGenetics, PreventionGenetics 0 0 0 5 8 13
GeneDx 5 2 0 0 2 9
Pediatric Nephrology Laboratory,The University of Tokyo Hospital 7 0 0 0 0 7
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 4 1 1 0 0 6
Institute of Human Genetics,Cologne University 2 1 1 0 0 4
Institute of Human Genetics, Klinikum rechts der Isar 3 1 0 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 1 2
Fulgent Genetics,Fulgent Genetics 2 0 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 1 1 0 0 2
Felix Claverie-Martin Laboratory,Hospital Universitario Nuestra Senora de Candelaria 2 0 0 0 0 2
Baylor Genetics 1 0 0 0 0 1
Ambry Genetics 0 0 1 0 0 1
Mendelics 0 0 0 0 1 1
ISCA site 4 0 0 1 0 0 1
ISCA site 2 0 0 0 0 1 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 1 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 1 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 1 0 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 1 0 0 0 0 1

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