ClinVar Miner

Variants studied for Microcephaly 5, primary, autosomal recessive

Coded as:
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
132 53 352 73 55 100 663

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
ASPM 130 52 348 72 53 100 654
ASPM, LOC129932155 1 1 4 1 1 0 7
MFSD8 1 0 0 0 0 0 1
SLC26A4 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Genome-Nilou Lab 47 17 144 40 49 0 297
Illumina Laboratory Services, Illumina 1 0 170 38 33 0 242
Genetic Services Laboratory, University of Chicago 58 2 72 0 0 0 132
GeneReviews 1 0 0 0 0 100 101
Revvity Omics, Revvity 15 9 32 0 0 0 56
Fulgent Genetics, Fulgent Genetics 3 2 21 15 1 0 42
Baylor Genetics 5 1 15 0 0 0 21
Service de Génétique Moléculaire, Hôpital Robert Debré 11 6 0 1 0 0 18
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 14 0 15
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 9 0 0 0 13
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 13 0 0 0 0 0 13
OMIM 11 0 0 0 0 0 11
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 11 0 11
3billion 9 2 0 0 0 0 11
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 7 0 1 0 2 0 10
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 6 3 0 1 0 0 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 1 2 2 0 0 6
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 2 3 1 0 0 0 6
New York Genome Center 0 0 5 0 0 0 5
Johns Hopkins Genomics, Johns Hopkins University 3 0 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 0 0 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 0 0 0 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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 2 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 1 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 2 0 0 0 0 0 2
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 1 1 0 0 0 2
Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS) 2 0 0 0 0 0 2
Genomics England Pilot Project, Genomics England 0 2 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 0 1
Medical Research Institute, Tokyo Medical and Dental University 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 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
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 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
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 0 0 1
Pediatrics Genetics, Post Graduate Institute of Medical Education and Research 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 1 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
Payam Genetics Center, General Welfare Department of North Khorasan Province 0 1 0 0 0 0 1

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