Variants studied for Orofaciodigital syndrome type 14

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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
5	11	17	0	3	35

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
C2CD3	5	11	16	3	34
C2CD3, LOC126861262	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	5	0	0	0	5
Revvity Omics, Revvity	0	3	2	0	5
Baylor Genetics	0	0	3	0	3
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	3	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	2	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	0	2	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	0	1	1	2
Daryl Scott Lab, Baylor College of Medicine	0	0	1	1	2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	2	0	2
Genome-Nilou Lab	0	0	0	2	2
Neuberg Centre For Genomic Medicine, NCGM	0	1	1	0	2
Department of Pediatrics, National Cheng-Kung University Hospital	0	2	0	0	2
Mendelics	0	0	1	0	1
Fulgent Genetics, Fulgent Genetics	0	1	0	0	1
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	1	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	1	0	1
New York Genome Center	0	1	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	1

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