Variants studied for CODAS syndrome

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
4	4	18	2	1	29

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
LONP1	4	4	17	2	1	28
LOC130063270, LONP1	0	0	1	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	7	0	0	7
OMIM	4	0	0	0	0	4
Revvity Omics, Revvity	0	0	3	0	0	3
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	1	1	0	3
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	0	0	2	0	0	2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	2	0	0	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	0	2	0	0	2
3billion	0	0	2	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	1	0	0	0	1
Mayo Clinic Laboratories, Mayo Clinic	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Fulgent Genetics, Fulgent Genetics	0	0	0	1	0	1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	0	1	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	0	1	0	0	1

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