ClinVar Miner

Variants studied for microcephaly with intellectual disability

Included ClinVar conditions (1):
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
27 56 126 10 27 7 235

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MCPH1 17 52 118 10 27 7 215
ANGPT2, MCPH1 2 4 7 0 0 0 11
ASPM 5 0 0 0 0 0 5
CENPJ 1 0 0 0 0 0 1
CENPJ, RNF17 0 0 1 0 0 0 1
LOC123987612, LOC126860289, LOC126860290, LOC129389953, LOC129999779, LOC129999780, LOC129999781, MCPH1, MCPH1-DT 1 0 0 0 0 0 1
LOC123987612, LOC129999780, LOC129999781, MCPH1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 32
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 84 7 24 0 115
Fulgent Genetics, Fulgent Genetics 1 44 14 2 1 0 62
Genetic Services Laboratory, University of Chicago 5 3 25 0 0 0 33
Revvity Omics, Revvity 1 2 10 0 0 0 13
Genome-Nilou Lab 0 0 0 0 10 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 9 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 9 0 9
OMIM 7 0 0 0 0 0 7
GeneReviews 1 0 0 0 0 6 7
Baylor Genetics 0 0 6 0 0 0 6
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 6 0 0 0 0 0 6
3billion, Medical Genetics 2 0 2 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 2 1 0 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 1 0 0 0 2
Department of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Hehr Laboratory, Center for Human Genetics Regensburg 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Genomics, Clalit Research Institute, Clalit Health Care 1 0 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1

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