Variants studied for Stickler 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
9	7	3	1	0	20

Gene and significance breakdown #

Total genes and gene combinations: 11

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
COL2A1	4	2	0	0	6
COL9A3	2	0	1	0	3
COL11A1	1	1	0	0	2
COL9A2	0	2	0	0	2
ALMS1	0	1	0	0	1
CDH23	0	0	1	0	1
COL4A3, MFF-DT	0	0	1	0	1
COL9A1	0	1	0	0	1
LOXHD1	0	0	0	1	1
LOXL3	1	0	0	0	1
VCAN	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 10

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
Department of Otolaryngology – Head & Neck Surgery, Cochlear Implant Center	0	3	2	1	6
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	2	0	0	2
Molecular Genetics Laboratory, Institute for Ophthalmic Research	1	1	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	1	0	0	2
Center for Medical Genetics Ghent, University of Ghent	2	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	2	0	0	0	2
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service	1	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada	1	0	0	0	1
Molecular Genetics, Royal Melbourne Hospital	1	0	0	0	1

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