Variants studied for spondyloepimetaphyseal dysplasia, Strudwick type

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	not provided	total
18	15	15	11	4	2	64

Gene and significance breakdown #

Total genes and gene combinations: 2

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
COL2A1	18	15	15	11	3	2	63
FN1, FN1-DT	0	0	0	0	1	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Fulgent Genetics, Fulgent Genetics	6	4	11	11	3	0	35
Juno Genomics, Hangzhou Juno Genomics, Inc	3	3	4	0	0	0	10
OMIM	5	0	0	0	0	0	5
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi	1	3	0	0	0	0	4
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	0	2
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	2	0	0	0	0	0	2
Mendelics	0	0	0	0	1	0	1
Institute of Human Genetics, University Hospital of Duesseldorf	0	1	0	0	0	0	1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	1	0	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	1	0	0	0	0	0	1
Institute of Human Genetics, University Hospital Muenster	0	1	0	0	0	0	1
3billion, Medical Genetics	0	1	0	0	0	0	1
GenomeConnect - Brain Gene Registry	0	0	0	0	0	1	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	1	0	0	0	0	1

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