ClinVar Miner

Variants in gene MCPH1

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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
49 35 320 549 116 7 956

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 33 15 185 513 112 0 821
Microcephaly 1, primary, autosomal recessive 16 12 117 9 27 7 174
Inborn genetic diseases 0 0 70 5 0 0 75
not specified 0 0 19 31 35 0 75
MCPH1-related condition 0 1 2 26 6 0 35
Autosomal recessive primary microcephaly 4 6 0 0 0 0 10
Intellectual disability 0 0 2 2 0 0 4
Primary Microcephaly, Recessive 0 0 1 0 1 0 2
See cases 2 0 0 0 0 0 2
Abnormal brain morphology 0 1 0 0 0 0 1
Abnormality of the nervous system 0 1 0 0 0 0 1
Global developmental delay; Primary microcephaly 0 1 0 0 0 0 1
Microcephaly 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 32 9 128 469 64 0 702
GeneDx 4 3 27 38 74 0 146
Illumina Laboratory Services, Illumina 0 0 80 7 25 0 112
Genetic Services Laboratory, University of Chicago 4 4 38 23 21 0 90
Ambry Genetics 0 0 70 5 0 0 75
Eurofins Ntd Llc (ga) 0 0 38 6 14 0 58
PreventionGenetics, part of Exact Sciences 0 1 2 26 14 0 43
Athena Diagnostics Inc 0 1 6 0 17 0 24
CeGaT Center for Human Genetics Tuebingen 0 0 3 17 0 0 20
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 17 0 19
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 18 0 18
Fulgent Genetics, Fulgent Genetics 1 1 11 2 1 0 16
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 6 3 1 0 0 14
Revvity Omics, Revvity 1 2 9 0 0 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 10
Genome-Nilou Lab 0 0 0 0 10 0 10
OMIM 6 0 0 0 0 0 6
GeneReviews 0 0 0 0 0 6 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 6 0 0 0 6
Baylor Genetics 0 0 5 0 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 4 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 2 0 0 4
3billion 2 0 2 0 0 0 4
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 2 1 0 0 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 1 0 1 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 0 0 0 2
Institute of Human Genetics, University Hospital Muenster 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
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Bionano Laboratories 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 1 0 0 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 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
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 1 1

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