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 total
38 22 212 125 86 409

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
not provided 12 7 93 64 65 214
Primary autosomal recessive microcephaly 2 26 12 119 14 29 193
not specified 0 0 24 73 42 121
Intellectual disability 1 3 3 0 0 7
Primary Microcephaly 2 With or Without Cortical Malformations 0 0 4 0 0 4
Microcephaly, Cortical Malformations, and Intellectual Disability 0 0 3 0 0 3
Primary Microcephaly, Recessive 0 0 3 0 0 3
Abnormality of neuronal migration 2 0 0 0 0 2
Inborn genetic diseases 1 1 0 0 0 2
Global developmental delay; Seizures 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 1
Primary autosomal recessive microcephaly 0 1 0 0 0 1
Primary microcephaly type 2 1 0 0 0 0 1
See cases 0 0 1 0 0 1
Seizures 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneDx 7 5 9 63 42 126
Illumina Clinical Services Laboratory,Illumina 0 0 86 9 28 123
Genetic Services Laboratory, University of Chicago 5 6 49 31 27 118
Invitae 3 0 6 44 27 80
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 54 7 16 80
Athena Diagnostics Inc 0 0 7 3 24 34
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 24 5 0 30
PreventionGenetics, PreventionGenetics 0 0 0 0 19 19
OMIM 13 0 0 0 0 13
Baylor Genetics 1 1 11 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 1 6 7
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 3 4 7
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 5 1 6
Fulgent Genetics,Fulgent Genetics 1 0 3 1 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 2 2 0 1 0 5
Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire,Universite Libre de Bruxelles 2 0 2 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 1 0 0 3
New York Genome Center 0 0 3 0 0 3
Ambry Genetics 1 1 0 0 0 2
Integrated Genetics/Laboratory Corporation of America 0 1 1 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 2
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 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 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 1
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
ISCA site 6 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 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
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 1 0 0 0 1
Human Genetics Department,Tarbiat Modares University 0 0 1 0 0 1

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