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
164 21 302 150 80 605

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Primary autosomal recessive microcephaly 5 133 9 90 5 27 259
not provided 52 7 120 11 26 213
not specified 0 0 39 124 73 208
Primary Microcephaly, Recessive 0 0 124 18 13 155
Inborn genetic diseases 4 1 5 0 0 10
Microcephaly 0 3 0 0 0 3
Primary autosomal recessive microcephaly 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Genetic Services Laboratory, University of Chicago 58 2 100 35 53 248
GeneDx 50 4 33 92 32 211
Illumina Clinical Services Laboratory,Illumina 0 0 127 18 13 158
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 2 0 90 8 28 128
GeneReviews 79 0 0 0 22 101
Athena Diagnostics Inc 2 0 18 4 28 52
PreventionGenetics 0 0 0 2 17 19
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
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 2 0 4
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 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
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
Broad Institute Rare Disease Group,Broad Institute 0 1 0 0 0 1

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