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
147 11 60 37 30 268

Condition and significance breakdown #

Total conditions: 15
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Oral-facial-digital syndrome 115 5 2 0 5 127
Joubert syndrome; Oral-facial-digital syndrome 11 2 19 7 22 61
not specified 0 0 12 20 13 42
not provided 14 3 19 1 2 39
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; Ciliary dyskinesia 3 0 0 0 0 3
Oral-facial-digital syndrome; Retinitis Pigmentosa 23; Simpson-Golabi-Behmel syndrome, type 2; Joubert syndrome 10 0 0 2 0 0 2
Ciliary dyskinesia 1 0 0 0 0 1
Orofacial-digital syndrome III 1 0 0 0 0 1
Postaxial polydactyly; Abnormality of the nail; Ridged nail; Bifid nail 0 0 1 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: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
GeneReviews 112 0 0 0 5 117
Invitae 11 2 20 7 22 62
GeneDx 10 3 5 10 6 34
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 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 1 4
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
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 0 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 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
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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