ClinVar Miner

Variants studied for Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

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 total
36 30 143 14 46 253

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
WDR62 36 30 143 14 46 253

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Laboratory Services, Illumina 0 1 82 9 28 120
Genome-Nilou Lab 0 0 0 0 46 46
Genetic Services Laboratory, University of Chicago 5 6 27 0 0 38
Revvity Omics, Revvity 3 3 14 0 0 20
Baylor Genetics 0 1 13 0 0 14
OMIM 13 0 0 0 0 13
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 6 3 2 0 0 11
Athena Diagnostics 0 0 0 0 10 10
Fulgent Genetics, Fulgent Genetics 1 0 7 1 1 10
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 1 3 0 0 7
Institute of Human Genetics, University of Leipzig Medical Center 2 1 4 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 4 7
Service de Génétique Moléculaire, Hôpital Robert Debré 2 2 0 1 0 5
3billion 2 2 0 0 0 4
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 1 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 1 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 1
Genetics Laboratory, University of Sistan and Baluchestan 0 1 0 0 0 1

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