ClinVar Miner

Variants studied for Oral-facial-digital syndrome

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
115 5 3 0 6 129

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 115 5 2 5 127
​intergenic 0 0 0 1 1
TMEM17 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance benign total
GeneReviews 112 0 0 6 118
OMIM 6 0 0 0 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 2 4 0 0 6
Genetic Services Laboratory, University of Chicago 1 0 1 0 2
Institute of Human Genetics,University of Goettingen 0 1 0 0 1
Invitae 0 0 1 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

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