Variants studied for Stickler syndrome type 1

Minimum submission review status:		Collection method:
Minimum conflict level:
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
18	5	1	1	0	25

Gene and significance breakdown #

Total genes and gene combinations: 1

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	total
COL2A1	18	5	1	1	25

Submitter and significance breakdown #

Total submitters: 8

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	total
OMIM	10	0	0	0	10
Center for Human Genetics, Inc	4	4	1	0	9
GeneReviews	2	0	0	0	2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	1	0	0	0	1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	1	0	0	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	0	0	1	1
Undiagnosed Diseases Network,NIH	1	0	0	0	1
Molecular Diagnostics Laboratory,M Health: University of Minnesota	1	0	0	0	1

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