Variants studied for Epiphyseal dysplasia, multiple, 3

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	7	0	7	22

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	benign	total
COL9A3	4	4	6	7	21
COL9A3, LOC126863084	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	benign	total
Genome-Nilou Lab	0	0	0	6	6
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	0	3	0	3
OMIM	2	0	0	0	2
Mendelics	0	0	0	2	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	1	0	2
Baylor Genetics	1	0	0	0	1
Institute of Human Genetics, Cologne University	0	0	1	0	1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München	0	1	0	0	1
Illumina Laboratory Services, Illumina	0	0	1	0	1
Centre for Mendelian Genomics, University Medical Centre Ljubljana	0	1	0	0	1
Johns Hopkins Genomics, Johns Hopkins University	0	0	1	0	1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	1	0	0	0	1
3billion	0	1	0	0	1

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