ClinVar Miner

Variants studied for Orofaciodigital syndrome I

Coded as:
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
21 13 5 0 2 41

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
OFD1 21 13 4 2 40
TMEM17 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance benign total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 5 0 0 8
OMIM 6 0 0 0 6
3billion 1 2 0 0 3
Baylor Genetics 0 1 1 0 2
Genetic Services Laboratory, University of Chicago 1 0 1 0 2
GeneReviews 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 2
Genome-Nilou Lab 0 0 0 2 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 1
MGZ Medical Genetics Center 1 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 0 0 0 1
Invitae 0 0 1 0 1
Mendelics 0 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 1
Hadassah Hebrew University Medical Center 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 1 0 0 0 1
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 1 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 1
Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences 0 1 0 0 1

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