Variants studied for Pseudoachondroplastic spondyloepiphyseal dysplasia 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	not provided	total
19	18	35	8	21	11	109

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	not provided	total
COMP	19	18	35	8	21	11	109

Submitter and significance breakdown #

Total submitters: 13

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Illumina Laboratory Services, Illumina	0	0	33	8	21	0	62
GeneReviews	0	0	0	0	0	11	11
OMIM	10	0	0	0	0	0	10
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	2	8	0	0	0	0	10
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	5	4	0	0	0	0	9
Mendelics	1	3	0	0	0	0	4
Neuberg Centre For Genomic Medicine, NCGM	1	0	1	0	0	0	2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	1	0	0	0	0	0	1
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	1	0	0	0	1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital	0	1	0	0	0	0	1
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ	0	1	0	0	0	0	1
3billion	0	1	0	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	1	0	0	0	0	0	1

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