ClinVar Miner

Variants in gene OFD1

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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 total
100 54 523 374 120 1046

Condition and significance breakdown #

Total conditions: 31
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Joubert syndrome; Orofaciodigital syndrome I 37 9 312 237 83 678
not provided 29 6 111 72 52 261
Primary ciliary dyskinesia 9 4 80 58 15 164
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 5 3 90 28 1 127
Orofaciodigital syndrome I 28 20 9 0 2 59
not specified 0 0 23 21 17 58
OFD1-related disorder 4 2 12 27 1 46
Retinal dystrophy 1 0 12 6 2 21
Joubert syndrome 10 8 6 4 1 2 20
Simpson-Golabi-Behmel syndrome type 2 3 1 5 0 2 11
Retinitis pigmentosa 23 1 0 2 0 2 5
Inborn genetic diseases 2 1 0 0 0 3
Intellectual disability 0 0 0 3 0 3
Joubert syndrome; Primary ciliary dyskinesia 3 0 0 0 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
Simpson-Golabi-Behmel syndrome 1 1 0 0 0 2
COACH syndrome 1 0 0 0 0 1
Ciliopathy 0 0 0 1 0 1
Congenital anomaly of kidney and urinary tract 0 0 1 0 0 1
OFD1-related ciliopathy 0 0 1 0 0 1
Orofacial-digital syndrome III 1 0 0 0 0 1
Orofaciodigital syndrome 0 1 0 0 0 1
Osteoporosis 0 1 0 0 0 1
Polydactyly, postaxial, type A1; Abnormal nail morphology; 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
Respiratory ciliopathies including non-CF bronchiectasis 1 0 0 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: 81
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 37 9 313 239 83 681
GeneDx 20 3 62 41 51 177
Ambry Genetics 8 1 79 58 15 161
Fulgent Genetics, Fulgent Genetics 5 2 89 27 1 124
PreventionGenetics, part of Exact Sciences 3 2 11 34 10 60
CeGaT Center for Human Genetics Tuebingen 3 0 17 23 0 43
Genetic Services Laboratory, University of Chicago 3 1 12 7 10 33
Breakthrough Genomics, Breakthrough Genomics 0 0 2 13 14 29
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 1 9 5 0 18
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 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 0 5 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 2 2 1 0 0 5
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 3 5
Clinical Genetics Laboratory, Skane University Hospital Lund 3 0 2 0 0 5
3billion 1 3 1 0 0 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
MVZ Medizinische Genetik Mainz 0 3 1 0 0 4
Mendelics 1 0 2 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 2 1 0 0 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
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
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 0 2 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 1 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
Gharavi Laboratory, Columbia University 0 1 1 0 0 2
Johns Hopkins Genomics, Johns Hopkins University 0 0 2 0 0 2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 2
Human Developmental Genetics, Institut Pasteur 0 0 2 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 2
Endocrinology, CHU de Quebec-Université Laval 1 1 0 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
Illumina Laboratory Services, Illumina 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 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
Daryl Scott Lab, Baylor College of Medicine 0 0 1 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
Genetics Institute, Tel Aviv Sourasky Medical Center 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 0 0 1
Medical Genetics Laboratory, West China Hospital, Sichuan University 1 0 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 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
NHS Central & South Genomic Laboratory Hub 1 0 0 0 0 1

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