ClinVar Miner

Variants in gene OFD1

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
148 12 68 54 48 301

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Orofaciodigital syndrome I 115 6 3 0 5 128
not provided 15 3 23 23 38 94
Joubert syndrome; Orofaciodigital syndrome I 11 2 22 3 4 42
not specified 0 0 11 20 13 41
History of neurodevelopmental disorder 1 0 8 8 10 27
Joubert syndrome 10 7 0 0 0 0 7
Inborn genetic diseases 2 1 0 0 0 3
Joubert syndrome; Primary ciliary dyskinesia 3 0 0 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
Orofacial-digital syndrome III 1 0 0 0 0 1
Postaxial polydactyly type A1; Abnormality of the nail; Ridged nail; Bifid nail 0 0 1 0 0 1
Primary ciliary dyskinesia 1 0 0 0 0 1
Retinitis Pigmentosa 23 1 0 0 0 0 1
See cases 0 0 0 1 0 1
Simpson-Golabi-Behmel syndrome, type 2 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 25
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneReviews 112 0 0 0 5 117
Invitae 11 2 23 20 39 95
GeneDx 11 3 5 15 8 42
Ambry Genetics 3 1 8 8 10 30
Genetic Services Laboratory, University of Chicago 3 0 10 6 7 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 2 4 0 0 0 6
Athena Diagnostics Inc 0 0 3 0 2 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 5 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
Baylor Genetics 1 0 1 0 0 2
Fulgent Genetics,Fulgent 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,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
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
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 1 0 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 1 0 0 1

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