Variants studied for Stickler syndrome, type I, nonsyndromic ocular

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
11	5	6	0	0	22

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	total
COL2A1	11	5	6	22

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	total
OMIM	7	0	0	7
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	1	0	2
Miami Human Genetics, University Of Miami Miller School Of Medicine	1	0	1	2
Genetics and Molecular Pathology, SA Pathology	1	0	1	2
3billion, Medical Genetics	1	0	1	2
Institute of Human Genetics, Cologne University	0	1	0	1
MGZ Medical Genetics Center	0	0	1	1
Ocular Genomics Institute, Massachusetts Eye and Ear	0	1	0	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	1	0	1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn	0	1	0	1
Neuberg Centre For Genomic Medicine, NCGM	0	0	1	1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein	1	0	0	1
MVZ Medizinische Genetik Mainz	0	0	1	1

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