ClinVar Miner

Variants studied for lissencephaly type 3

Included ClinVar conditions (9):
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 not provided total
81 84 187 120 27 5 475

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PSAT1 25 6 119 114 13 0 277
TUBA1A 42 67 32 0 2 5 124
PHGDH 11 11 36 6 10 0 69
CENPJ 2 0 0 0 0 0 2
AIPL1 0 0 0 0 1 0 1
CEP78, GNA14, GNAQ, PSAT1, VPS13A 1 0 0 0 0 0 1
NKX2-5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 73
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 23 5 116 114 11 0 269
Genome-Nilou Lab 0 10 31 5 16 0 62
Genetic Services Laboratory, University of Chicago 7 17 4 0 0 0 28
Baylor Genetics 6 5 8 0 0 0 19
OMIM 17 0 0 0 0 0 17
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 3 9 0 2 0 15
Institute of Human Genetics, University of Leipzig Medical Center 4 7 3 0 0 0 14
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 3 2 0 0 0 13
Fulgent Genetics, Fulgent Genetics 2 3 3 0 0 0 8
MGZ Medical Genetics Center 2 2 0 0 0 0 4
GeneReviews 0 0 0 0 0 4 4
Bruce Lefroy Centre, Murdoch Childrens Research Institute 1 2 1 0 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 2 0 0 0 0 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 2 1 1 0 0 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 0 0 0 0 0 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 2 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 1 0 0 0 3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 2 1 0 0 0 0 3
Service de Génétique Moléculaire, Hôpital Robert Debré 2 1 0 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 2 0 0 0 0 3
Genomic Medicine Lab, University of California San Francisco 3 0 0 0 0 0 3
3billion 1 0 1 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 0 2
Institute of Human Genetics, University of Goettingen 1 1 0 0 0 0 2
Revvity Omics, Revvity 0 0 2 0 0 0 2
Counsyl 0 0 2 0 0 0 2
Mendelics 1 1 0 0 0 0 2
Dobyns Lab, Seattle Children's Research Institute 1 1 0 0 0 0 2
Area of Clinical and Molecular Genetics, Hospital Universitario Vall de Hebron 2 0 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 2 0 0 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 2 0 0 0 0 2
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Stanford Medicine 0 0 2 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Suma Genomics 1 1 0 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 1 0 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 1 0 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 0 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 1 0 0 0 0 1
Prenatal Medicine Munich, Prenatal Medicine Munich 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 0 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Department of Pediatrics, Driscoll Children's Hospital 1 0 0 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 1 0 0 0 0 0 1
Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics 0 1 0 0 0 0 1
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 1 0 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Institute of Medical Genetics, Medical University of Vienna 0 0 1 0 0 0 1
Kids Neuroscience Centre, Sydney Children's Hospitals Network 0 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 1 0 0 0 0 0 1
Pediatric Genetics Clinic, Sheba Medical Center 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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