Variants studied for Stickler syndrome type 1

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
29	14	70	25	32	170

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	benign	total
COL2A1	29	14	70	25	32	170

Submitter and significance breakdown #

Total submitters: 18

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Illumina Clinical Services Laboratory,Illumina	0	0	67	24	29	120
Mendelics	4	4	1	0	3	12
OMIM	10	0	0	0	0	10
Center for Human Genetics, Inc,Center for Human Genetics, Inc	4	4	1	0	0	9
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	1	3	0	0	0	4
GeneReviews	2	0	0	0	0	2
Undiagnosed Diseases Network,NIH	1	1	0	0	0	2
Johns Hopkins Genomics, Johns Hopkins University	1	1	0	0	0	2
Baylor Genetics	0	0	1	0	0	1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute	1	0	0	0	0	1
Institute of Human Genetics, Klinikum rechts der Isar	1	0	0	0	0	1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare	1	0	0	0	0	1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues	0	1	0	0	0	1
MVZ Praenatalmedizin und Genetik Nuernberg	0	0	0	1	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	1	0	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
DBGen Ocular Genomics	1	0	0	0	0	1

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