ClinVar Miner

Variants in gene WDR81

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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
14 28 314 158 41 3 512

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 8 13 93 118 40 0 258
Inborn genetic diseases 2 0 222 18 1 0 243
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 7 7 21 5 8 2 50
WDR81-related disorder 0 1 5 28 4 1 39
not specified 0 1 7 16 3 0 25
Hydrocephalus, congenital, 3, with brain anomalies 3 1 6 0 8 0 18
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies 0 4 8 4 0 0 16
Cerebellar ataxia 0 1 0 0 0 0 1
Exstrophy-epispadias complex 0 0 1 0 0 0 1
Fraser syndrome 3 0 0 1 0 0 0 1
Microcephaly; Epileptic encephalopathy 0 1 0 0 0 0 1
Microlissencephaly 1 0 0 0 0 0 1
Neonatal death; Hydranencephaly; Severe brain malformation; Severe cerebellar hypoplasia 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ambry Genetics 2 0 222 18 1 0 243
Labcorp Genetics (formerly Invitae), Labcorp 1 0 0 63 23 0 87
CeGaT Center for Human Genetics Tuebingen 0 2 18 63 3 0 86
GeneDx 7 7 48 2 10 0 74
Breakthrough Genomics, Breakthrough Genomics 0 0 2 11 26 0 39
PreventionGenetics, part of Exact Sciences 0 1 5 28 4 0 38
Revvity Omics, Revvity 0 0 21 0 0 0 21
Baylor Genetics 1 0 15 0 0 0 16
Genetic Services Laboratory, University of Chicago 0 0 2 14 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 0 2 11 0 0 0 13
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 4 4 4 0 0 0 11
Fulgent Genetics, Fulgent Genetics 0 1 4 3 0 0 8
Genome-Nilou Lab 0 0 0 0 8 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 2 1 3 1 0 0 7
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 3 3 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 1 0 0 4 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 1 0 3 1 0 0 5
New York Genome Center 0 1 4 0 0 0 5
OMIM 4 0 0 0 0 0 4
Eurofins Ntd Llc (ga) 0 0 2 1 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 2 0 0 0 0 3
Department of Pathology and Laboratory Medicine, Sinai Health System 0 3 0 0 0 0 3
GenomeConnect, ClinGen 0 0 0 0 0 3 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 3 0 3
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 1 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 1 0 0 1
Mendelics 0 0 1 0 0 0 1
Genetic Diagnostic Laboratory, University of Szeged 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Department of Molecular Biology and Genetics, Acibadem University 0 0 1 0 0 0 1
3billion 0 0 0 1 0 0 1
Obstetrics and Gynecology Department, Johns Hopkins School Of Medicine 0 0 1 0 0 0 1

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