ClinVar Miner

Variants in gene WDR62

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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
66 48 446 383 118 1 925

Condition and significance breakdown #

Total conditions: 19
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 33 18 298 329 115 1 726
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 36 26 143 14 46 0 250
not specified 0 0 31 64 44 0 125
Inborn genetic diseases 2 1 73 14 0 0 90
WDR62-related condition 0 0 4 33 4 0 41
Intellectual disability 1 3 3 0 0 0 7
Primary Microcephaly 2 With or Without Cortical Malformations 0 0 4 0 0 0 4
Microcephaly, cortical malformations, and intellectual disability 0 0 3 0 0 0 3
Primary Microcephaly, Recessive 0 0 3 0 0 0 3
Abnormal cerebral morphology 0 2 0 0 0 0 2
Abnormality of neuronal migration 2 0 0 0 0 0 2
Autosomal recessive primary microcephaly 0 2 0 0 0 0 2
WDR62 Related Disorder 1 1 0 0 0 0 2
Abnormality of the nervous system 1 0 0 0 0 0 1
Global developmental delay; Seizure 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Primary microcephaly type 2 1 0 0 0 0 0 1
See cases 0 0 1 0 0 0 1
Seizure 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 56
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 15 4 177 243 62 0 501
GeneDx 16 10 69 118 85 0 298
Genetic Services Laboratory, University of Chicago 6 7 55 37 28 0 133
Illumina Laboratory Services, Illumina 0 1 86 9 28 0 124
Ambry Genetics 2 1 73 14 0 0 90
Eurofins Ntd Llc (ga) 3 0 54 7 16 0 80
PreventionGenetics, part of Exact Sciences 0 0 4 33 23 0 60
CeGaT Center for Human Genetics Tuebingen 3 1 28 22 2 0 56
Genome-Nilou Lab 0 0 0 0 46 0 46
Athena Diagnostics Inc 0 0 7 3 24 0 34
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 5 16 0 22
Revvity Omics, Revvity 3 3 14 0 0 0 20
Mayo Clinic Laboratories, Mayo Clinic 0 2 16 0 0 0 18
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 17 0 18
Baylor Genetics 0 1 13 0 0 0 14
OMIM 13 0 0 0 0 0 13
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles 6 3 2 0 0 0 11
Fulgent Genetics, Fulgent Genetics 1 0 7 1 1 0 10
Institute of Human Genetics, University of Leipzig Medical Center 3 2 4 0 0 0 8
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 0 7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 3 0 0 0 6
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 5 1 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 2 2 1 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 2 2 0 1 0 0 5
3billion 2 2 0 0 0 0 4
New York Genome Center 0 0 3 0 0 0 3
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 0 2 0 0 0 2
Centogene AG - the Rare Disease Company 1 0 1 0 0 0 2
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 2 0 0 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 2 0 0 0 2
Diagnostic Laboratory, Strasbourg University Hospital 0 2 0 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 1 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 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 0 2
Institute of Human Genetics, University of Goettingen 0 0 1 0 0 0 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 0 1 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
ISCA Site 6 0 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 1 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing, NIH 0 0 0 0 0 1 1
Human Genetics Department, Tarbiat Modares University 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 1 0 0 0 1
Genetics Laboratory, University of Sistan and Baluchestan 0 1 0 0 0 0 1

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