ClinVar Miner

Variants in gene OFD1

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Minimum submission review status: Collection method:
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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
86 38 391 320 120 857

Condition and significance breakdown #

Total conditions: 28
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Familial aplasia of the vermis; Orofaciodigital syndrome I 31 8 263 203 83 588
not provided 21 6 82 69 47 220
Primary ciliary dyskinesia; Inborn genetic diseases 5 0 30 31 15 81
not specified 0 0 20 16 17 50
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 5 0 15 22 1 43
Orofaciodigital syndrome I 21 13 4 0 2 40
OFD1-related condition 1 1 9 20 1 32
Inborn genetic diseases 3 1 18 4 0 26
Joubert syndrome 10 8 5 3 1 2 19
Retinal dystrophy 1 0 10 6 2 19
Simpson-Golabi-Behmel syndrome type 2 3 1 5 0 2 11
Primary ciliary dyskinesia 2 4 3 0 0 9
Retinitis pigmentosa 23 1 0 2 0 2 5
Familial aplasia of the vermis; Primary ciliary dyskinesia 3 0 0 0 0 3
Intellectual disability 0 0 0 3 0 3
History of neurodevelopmental disorder 0 0 2 0 0 2
Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 1 0 1 0 0 2
Peripheral precocious puberty 0 0 2 0 0 2
COACH syndrome 1 0 0 0 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 1
OFD1-related ciliopathy 0 0 1 0 0 1
OFD1-related disorder 1 0 0 0 0 1
Orofacial-digital syndrome III 1 0 0 0 0 1
Polydactyly, postaxial, type A1; Abnormality of the nail; Ridged nail; Bifid nail 0 0 1 0 0 1
Polymicrogyria; Cerebellar vermis hypoplasia; Ventriculomegaly 0 1 0 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 1
See cases 0 0 0 1 0 1
Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 70
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 31 8 264 206 83 592
GeneDx 15 3 39 41 51 149
Ambry Genetics 7 1 50 35 15 108
PreventionGenetics, part of Exact Sciences 1 1 9 27 10 48
Fulgent Genetics, Fulgent Genetics 5 0 15 22 1 43
CeGaT Center for Human Genetics Tuebingen 2 0 13 19 0 34
Genetic Services Laboratory, University of Chicago 3 1 12 7 10 33
Eurofins Ntd Llc (ga) 2 0 10 0 5 17
Dept Of Ophthalmology, Nagoya University 1 0 8 6 2 17
Revvity Omics, Revvity 2 0 12 0 0 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 9 4 13
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 10 2 12
OMIM 11 0 0 0 0 11
Clinical Genetics, Academic Medical Center 0 0 0 4 7 11
Athena Diagnostics Inc 0 0 3 1 4 8
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 5 0 0 0 8
Baylor Genetics 1 2 4 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 6 0 0 7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 1 2 0 0 4
UW Hindbrain Malformation Research Program, University of Washington 4 0 0 0 0 4
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 4 0 0 4
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 3 0 0 4
Molecular and Clinical Genetics, Institute of Human Genetics P.A.S. 4 0 0 0 0 4
3billion 1 3 0 0 0 4
Mendelics 1 0 2 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 1 0 3
Yale Center for Mendelian Genomics, Yale University 0 3 0 0 0 3
GeneReviews 2 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 1 0 0 2
Blueprint Genetics 0 0 2 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 1 2
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 0 0 0 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Human Developmental Genetics, Institut Pasteur 0 0 2 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
ISCA Site 6 0 0 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 1
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 0 1
Neurogenetics Research Program, University of Adelaide 1 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Credence Genomics 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 0 1
Department of Pediatrics, National Cheng-Kung University Hospital 0 1 0 0 0 1

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