ClinVar Miner

Variants in gene ASPM

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 total
195 36 366 220 125 796

Condition and significance breakdown #

Total conditions: 10
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary autosomal recessive microcephaly 5 151 19 249 42 42 477
not provided 65 11 136 94 94 367
not specified 0 0 38 124 77 209
Intellectual disability 0 1 6 10 0 17
Inborn genetic diseases 7 0 9 0 0 16
Primary Microcephaly, Recessive 0 0 6 0 0 6
Primary autosomal recessive microcephaly 1 5 0 0 0 0 5
Primary autosomal recessive microcephaly 3 1 0 0 0 4
Microcephaly 0 3 0 0 0 3
Fetal akinesia sequence; Arthrogryposis multiplex congenita 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 48
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 54 5 33 101 58 251
Genetic Services Laboratory, University of Chicago 58 2 99 35 54 248
Illumina Clinical Services Laboratory,Illumina 0 0 177 38 33 248
Invitae 7 1 3 69 59 139
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 90 8 28 128
GeneReviews 79 0 0 0 22 101
Athena Diagnostics Inc 2 1 25 5 49 82
Baylor Genetics 7 1 15 0 0 23
CeGaT Praxis fuer Humangenetik Tuebingen 6 1 9 7 0 23
PreventionGenetics, PreventionGenetics 0 0 0 2 17 19
Service de Génétique Moléculaire,Hôpital Robert Debré 11 6 0 1 0 18
Fulgent Genetics,Fulgent Genetics 1 0 16 0 0 17
Ambry Genetics 7 0 9 0 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 6 10 0 16
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 14 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 1 6 4 12
OMIM 11 0 0 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 11 11
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 7 0 0 0 0 7
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 2 0 6
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 2 3 1 0 0 6
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 4 0 0 0 0 4
Broad Institute Rare Disease Group, Broad Institute 2 1 0 0 1 4
Integrated Genetics/Laboratory Corporation of America 3 0 0 0 0 3
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 1 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 1 0 0 2
Human Molecular Genetics and Metabolic Disorders,Pakistan Institute for Engineering and Applied Science (PIEAS) 2 0 0 0 0 2
Cirak Lab,University Hospital Cologne 1 1 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 1 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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