ClinVar Miner

Variants in gene ASPM

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Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
289 99 1177 698 155 154 2189

Condition and significance breakdown #

Total conditions: 40
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 181 29 642 555 143 0 1440
Microcephaly 5, primary, autosomal recessive 153 73 357 74 53 102 704
Inborn genetic diseases 19 0 522 84 0 0 625
not specified 1 0 54 106 80 0 219
ASPM-related disorder 4 1 5 36 19 0 65
Intellectual disability 0 1 6 9 0 0 16
Autosomal recessive primary microcephaly 12 3 0 0 0 0 15
Gastric cancer 0 0 0 0 0 12 12
Familial cancer of breast 0 0 0 0 0 9 9
Ovarian serous cystadenocarcinoma 0 0 0 0 0 9 9
Developmental and epileptic encephalopathy 116 7 0 0 0 0 0 7
Microcephaly 1, primary, autosomal recessive 7 0 0 0 0 0 7
Malignant tumor of esophagus 0 0 0 0 0 6 6
Sarcoma 0 0 0 0 0 6 6
Microcephaly 2 3 0 0 0 0 5
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 5 5
Abnormality of the nervous system 4 0 0 0 0 0 4
Hepatocellular carcinoma 0 0 0 0 0 4 4
Lung cancer 0 0 0 0 0 4 4
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 4 4
Cervical cancer 0 0 0 0 0 3 3
Melanoma 0 0 0 0 0 3 3
Acute myeloid leukemia 0 0 0 0 0 2 2
Cholangiocarcinoma 0 0 0 0 0 2 2
Fetal akinesia deformation sequence 1; Arthrogryposis multiplex congenita 1 1 0 0 0 0 2
Malignant tumor of urinary bladder 0 0 0 0 0 2 2
Nonpapillary renal cell carcinoma 0 0 0 0 0 2 2
See cases 1 1 0 0 0 0 2
Thymoma 0 0 0 0 0 2 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Adrenocortical carcinoma, hereditary 0 0 0 0 0 1 1
Clear cell carcinoma of kidney 0 0 0 0 0 1 1
Colon adenocarcinoma 0 0 0 0 0 1 1
Colorectal cancer 0 0 0 0 0 1 1
EBV-positive nodal T- and NK-cell lymphoma 0 0 0 1 0 0 1
Familial pancreatic carcinoma 0 0 0 0 0 1 1
Lissencephaly; Microcephaly 1 0 0 0 0 0 1
Lymphoma 0 0 0 0 0 1 1
Ovarian cancer 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 97
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 123 8 499 414 101 0 1145
Ambry Genetics 19 0 522 84 0 0 625
GeneDx 81 14 98 174 92 0 459
Genome-Nilou Lab 47 17 143 39 49 0 295
Genetic Services Laboratory, University of Chicago 63 4 103 39 54 0 263
Illumina Laboratory Services, Illumina 0 0 165 38 32 0 235
Eurofins Ntd Llc (ga) 2 0 89 8 27 0 126
GeneReviews 1 0 0 0 0 100 101
Breakthrough Genomics, Breakthrough Genomics 1 0 14 38 44 0 97
CeGaT Center for Human Genetics Tuebingen 16 0 23 50 8 0 97
Athena Diagnostics 2 1 32 7 52 0 94
PreventionGenetics, part of Exact Sciences 4 1 5 38 36 0 84
Revvity Omics, Revvity 17 12 34 0 0 0 63
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 54 54
Fulgent Genetics, Fulgent Genetics 3 2 25 15 1 0 46
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 12 2 12 5 0 0 31
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 1 20 0 22
Baylor Genetics 5 1 15 0 0 0 21
3billion 14 3 1 2 0 0 20
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 0 17 0 19
Service de Génétique Moléculaire, Hôpital Robert Debré 11 5 0 1 0 0 17
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 8 0 9 0 0 0 17
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 9 7 0 1 0 0 16
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 6 9 0 0 15
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 14 0 15
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 13 0 0 0 0 0 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 1 1 5 4 0 11
OMIM 11 0 0 0 0 0 11
Juno Genomics, Hangzhou Juno Genomics, Inc 7 2 1 0 0 0 10
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 0 1 0 1 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 7 2 0 0 0 9
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 5 2 1 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 5 0 0 0 7
Variantyx, Inc. 7 0 0 0 0 0 7
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 1 0 0 0 6
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 2 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 6 0 0 0 0 0 6
Department of Pediatric Genetics, Istanbul University - Cerrahpasa 1 4 0 0 0 0 5
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 5 0 0 0 0 0 5
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 5 0 0 0 0 0 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 0 0 0 0 5
New York Genome Center 0 0 5 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 3 0 1 0 0 0 4
Kariminejad - Najmabadi Pathology & Genetics Center 4 0 0 0 0 0 4
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 4 0 0 4
Centre of Medical Genetics, University Hospital Muenster 2 1 0 0 0 0 3
Dasa 3 0 0 0 0 0 3
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 2 0 0 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 2 0 0 1 0 0 3
Health Biotechnology Lab, Government College University Faisalabad 3 0 0 0 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
AiLife Diagnostics, AiLife Diagnostics 0 1 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Cirak Lab, University Hospital Cologne 1 1 0 0 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 2 0 0 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Cologne Center for Genomics, Faculty of Medicine, University of Cologne 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 1 0 1 0 0 0 2
Dubai Health Genomic Medicine Center, Dubai Health 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 1 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 2
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 2 0 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 1 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 2 0 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1 0 0 1 0 2
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 1 0 1 0 2
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 0 0 0 2 0 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 1 0 0 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department of Clinical Pathology, School of Medicine, Fujita Health University 0 0 0 1 0 0 1
Department of Human Genetics, Hannover Medical School 0 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 1 0 0 0 0 0 1
Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Goettingen 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de Biologia Molecular/Medicina Genomica - IFF/Fiocruz, Instituto Fernandes Figueira, Fundacao Oswaldo Cruz 1 0 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 1 0 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1
Medical Genetics Laboratory, AJA University of Medical Sciences 1 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 1 0 0 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 0 1
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1

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