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
14	8	7	0	1	30

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	14	8	7	1	30

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
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	1	1	2	0	4
3billion	0	3	0	0	3
Mendelics	3	0	0	0	3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	3	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	2
Genome-Nilou Lab	0	0	0	1	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	1	0	1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital	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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	0	1	0	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	1	0	0	1
SIB Swiss Institute of Bioinformatics	1	0	0	0	1

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