ClinVar Miner

Variants in gene OFD1

Minimum submission review status: Collection method:
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Gene type:
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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
159 20 97 68 48 363

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Orofaciodigital syndrome I 117 9 4 0 5 134
Joubert syndrome; Orofaciodigital syndrome I 20 2 42 15 25 104
not provided 18 5 22 23 19 82
not specified 0 0 11 20 14 41
History of neurodevelopmental disorder 1 0 8 8 10 27
Joubert syndrome 10 8 1 1 1 0 11
Inborn genetic diseases 2 1 1 0 0 4
Primary ciliary dyskinesia 1 1 2 0 0 4
Intellectual disability 0 0 0 3 0 3
Joubert syndrome; Primary ciliary dyskinesia 3 0 0 0 0 3
Simpson-Golabi-Behmel syndrome, type 2 2 0 1 0 0 3
Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 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
Retinal dystrophy 0 0 2 0 0 2
Retinitis pigmentosa 23 1 0 1 0 0 2
Congenital anomalies of kidney and urinary tract 0 0 1 0 0 1
Orofacial-digital syndrome III 1 0 0 0 0 1
Polymicrogyria; Cerebellar vermis hypoplasia; Ventriculomegaly 0 1 0 0 0 1
Postaxial polydactyly type A1; Abnormality of the nail; Ridged nail; Bifid nail 0 0 1 0 0 1
Rare genetic intellectual disability 0 0 1 0 0 1
See cases 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 20 2 43 29 39 133
GeneReviews 112 0 0 0 5 117
GeneDx 12 3 5 15 8 43
Ambry Genetics 3 1 9 8 10 31
Genetic Services Laboratory, University of Chicago 3 0 9 6 8 26
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 3 0 11 0 5 19
PreventionGenetics, PreventionGenetics 0 0 0 8 9 17
OMIM 11 0 0 0 0 11
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 5 0 0 0 8
Athena Diagnostics Inc 0 0 3 1 3 7
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 1 0 7
Baylor Genetics 1 1 3 0 0 5
UW Hindbrain Malformation Research Program,University of Washington 4 0 0 0 0 4
Molecular and Clinical Genetics,Institute of Human Genetics P.A.S. 4 0 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 3 0 3
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 1 2 0 0 3
Fulgent Genetics,Fulgent Genetics 0 0 2 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
Broad Institute Rare Disease Group, Broad Institute 1 0 1 0 0 2
Human Developmental Genetics,Institut Pasteur 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 0 1
Mendelics 0 0 1 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 1 0 0 0 0 1
ISCA site 6 0 0 0 1 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 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
Gharavi Laboratory,Columbia University 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 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

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