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
5	1	43	5	7	61

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
PCLO	5	1	43	5	7	61

Submitter and significance breakdown #

Total submitters: 18

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

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