ClinVar Miner

Variants in gene WDR19

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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
80 57 537 405 76 2 1051

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 50 22 431 373 35 0 911
not provided 9 11 44 33 41 0 131
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 1 6 74 31 1 0 113
Cranioectodermal dysplasia 4 5 2 65 12 23 2 102
Asphyxiating thoracic dystrophy 5 6 1 63 10 22 0 97
Inborn genetic diseases 0 2 47 1 0 0 50
Senior-Loken syndrome 8 10 5 5 0 21 0 39
Nephronophthisis 13 9 4 1 0 21 0 35
not specified 0 0 5 11 20 0 34
Connective tissue disorder 1 1 15 2 5 0 24
Jeune thoracic dystrophy 10 9 9 0 0 0 19
Cranioectodermal dysplasia 1 1 7 0 0 0 9
Retinal dystrophy 1 1 5 0 0 0 7
WDR19-related condition 1 0 4 0 0 0 5
WDR19-Related Disorders 0 0 3 0 0 0 3
Bardet-Biedl syndrome 0 0 2 0 0 0 2
Cone dystrophy 1 0 1 0 0 0 2
Nephronophthisis 13; Senior-Loken syndrome 8 2 0 0 0 0 0 2
Renal dysplasia and retinal aplasia 2 0 0 0 0 0 2
Retinitis pigmentosa 0 0 2 0 0 0 2
Saldino-Mainzer syndrome 2 0 0 0 0 0 2
Stargardt-like macular dystrophy 0 0 2 0 0 0 2
Type IV short rib polydactyly syndrome 2 2 0 0 0 0 2
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8 0 1 0 0 0 0 1
Craniosynostosis syndrome 0 0 1 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Leber congenital amaurosis 0 1 0 0 0 0 1
Spermatogenic failure 72 1 0 0 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 50 22 431 375 35 0 913
Fulgent Genetics, Fulgent Genetics 1 7 74 31 1 0 114
Illumina Laboratory Services, Illumina 0 0 72 13 12 0 93
GeneDx 4 5 10 2 35 0 56
Ambry Genetics 0 2 47 1 0 0 50
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 16 13 8 0 38
Genome Diagnostics Laboratory, The Hospital for Sick Children 1 1 15 2 5 0 24
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 16 4 0 21
Genome-Nilou Lab 0 0 0 0 21 0 21
OMIM 20 0 0 0 0 0 20
Preventiongenetics, part of Exact Sciences 1 0 4 5 9 0 19
Clinical Genetics, Academic Medical Center 1 0 1 3 10 0 15
Eurofins Ntd Llc (ga) 1 1 10 2 0 0 14
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 0 5 5 0 11
University of Washington Center for Mendelian Genomics, University of Washington 0 11 0 0 0 0 11
CeGaT Center for Human Genetics Tuebingen 0 0 7 4 0 0 11
Dan Cohn Lab, University Of California Los Angeles 11 0 0 0 0 0 11
Blueprint Genetics 2 2 5 0 0 0 9
Genetic Services Laboratory, University of Chicago 0 0 4 2 2 0 8
Rare Disease Group, Clinical Genetics, Karolinska Institutet 2 0 4 0 0 0 6
Gharavi Laboratory, Columbia University 1 1 4 0 0 0 6
Molecular Biology Laboratory, Fundació Puigvert 2 4 0 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 0 5
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 1 4 0 0 5
Baylor Genetics 3 0 1 0 0 0 4
Mendelics 3 1 0 0 0 0 4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 3 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 4 0 0 0 4
Revvity Omics, Revvity Omics 1 0 2 0 0 0 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 3 0 0 0 0 3
Ocular Genomics Institute, Massachusetts Eye and Ear 1 0 2 0 0 0 3
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 1 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 2 0 0 0 2
GeneReviews 0 0 0 0 0 2 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 2 0 0 0 2
Fundación para la Investigación Sanitaria y Biomédica de la Comunidad Valenciana, FISABIO Oftalmología Médica 2 0 0 0 0 0 2
Sydney Genome Diagnostics, Children's Hospital Westmead 0 0 2 0 0 0 2
Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel 2 0 0 0 0 0 2
DBGen Ocular Genomics 1 0 1 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 1 0 0 0 2
Genomics And Bioinformatics Analysis Resource, Columbia University 1 1 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 0 1 0 0 0 1
Klinisk genetik och genomik Research, Gothenburg University 0 0 1 0 0 0 1
AiLife Diagnostics, AiLife Diagnostics 0 0 1 0 0 0 1
Institute of Vision Research, Yonsei University College of Medicine 0 1 0 0 0 0 1
3billion 1 0 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 1 0 0 0 0 1

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