Variants studied for Orofaciodigital syndrome type 6

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
13	8	7	0	1	29

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
CPLANE1	13	8	7	1	29

Submitter and significance breakdown #

Total submitters: 16

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
OMIM	5	0	0	0	5
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	1	1	2	0	4
Mendelics	3	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	0	3
3billion	0	3	0	0	3
Baylor Genetics	2	0	0	0	2
Centre for Mendelian Genomics, University Medical Centre Ljubljana	2	0	0	0	2
Department of Pediatrics, Taizhou Central Hospital, Taizhou University Hospital	1	1	0	0	2
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	0	0	1	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	1
Genome-Nilou Lab	0	0	0	1	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1

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