Variants studied for Pontocerebellar hypoplasia type 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	2	55	5	7	73

Gene and significance breakdown #

Total genes and gene combinations: 1

Download table as spreadsheet

Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
PCLO	4	2	55	5	7	73

Submitter and significance breakdown #

Total submitters: 19

Download table as spreadsheet

Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Baylor Genetics	0	0	19	0	0	19
Fulgent Genetics, Fulgent Genetics	0	1	6	4	0	11
Genome-Nilou Lab	0	0	0	0	7	7
Neuberg Centre For Genomic Medicine, NCGM	0	0	5	0	0	5
Daryl Scott Lab, Baylor College of Medicine	0	0	4	0	0	4
Department of Pathology and Laboratory Medicine, Sinai Health System	0	0	4	0	0	4
Revvity Omics, Revvity	0	0	4	0	0	4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	0	3	0	0	3
New York Genome Center	0	0	3	0	0	3
OMIM	3	0	0	0	0	3
Centogene AG - the Rare Disease Company	0	0	2	0	0	2
DECIPHERD-UDD, Universidad del Desarrollo	0	0	2	0	0	2
Institute of Human Genetics, University Hospital of Duesseldorf	0	0	2	0	0	2
3billion	0	0	0	1	0	1
Breda Genetics srl	0	0	1	0	0	1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	1	0	0	0	1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	0	1	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	0	1	0	0	1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.