ClinVar Miner

Variants studied for Orofaciodigital syndrome I

Coded as:
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
117 9 5 0 6 136

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
OFD1 117 9 4 5 134
​intergenic 0 0 0 1 1
TMEM17 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 112 0 0 6 118
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 3 5 0 0 8
OMIM 6 0 0 0 6
Baylor Genetics 0 1 1 0 2
Genetic Services Laboratory, University of Chicago 1 0 1 0 2
Clinical Genetics laboratory, University of Goettingen 0 1 0 0 1
Invitae 0 0 1 0 1
Mendelics 0 0 1 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
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

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