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
178 26 307 210 122 693

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 58 9 129 93 94 352
Primary autosomal recessive microcephaly 5 139 11 90 5 27 264
not specified 0 0 38 124 73 207
Primary Microcephaly, Recessive 0 0 124 18 13 155
Inborn genetic diseases 4 1 5 0 0 10
Primary autosomal recessive microcephaly 1 5 0 0 0 0 5
Microcephaly 0 3 0 0 0 3
Fetal akinesia sequence; Arthrogryposis multiplex congenita 1 1 0 0 0 2
Primary autosomal recessive microcephaly 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 34
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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 2 100 35 53 248
Illumina Clinical Services Laboratory,Illumina 0 0 127 18 13 158
Invitae 2 0 0 69 59 130
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 90 8 28 128
GeneReviews 79 0 0 0 22 101
Athena Diagnostics Inc 2 0 23 6 42 73
PreventionGenetics,PreventionGenetics 0 0 0 2 17 19
Fulgent Genetics,Fulgent Genetics 1 0 16 0 0 17
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 7 4 0 12
OMIM 11 0 0 0 0 11
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 0 11 11
Ambry Genetics 4 1 5 0 0 10
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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 2 0 0 0 3
Broad Institute Rare Disease Group,Broad Institute 2 1 0 0 0 3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 1 0 0 1 2
Mayo Clinic Genetic Testing 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
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
Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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