Variants studied for Pontocerebellar hypoplasia type 1A

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
61	26	139	247	13	1	468

Gene and significance breakdown #

Total genes and gene combinations: 3

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
VRK1	61	25	138	247	13	1	466
CHMP1A	0	1	0	0	0	0	1
LOC130056407, VRK1	0	0	1	0	0	0	1

Submitter and significance breakdown #

Total submitters: 20

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	not provided	total
Invitae	59	16	119	246	11	0	451
Natera, Inc.	0	1	29	5	1	0	36
Illumina Laboratory Services, Illumina	0	0	20	0	3	0	23
Fulgent Genetics, Fulgent Genetics	1	2	3	1	0	0	7
Baylor Genetics	1	2	1	0	0	0	4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	3	0	0	0	0	0	3
Genome-Nilou Lab	0	0	0	0	3	0	3
OMIM	2	0	0	0	0	0	2
Centogene AG - the Rare Disease Company	0	2	0	0	0	0	2
Genomic Research Center, Shahid Beheshti University of Medical Sciences	0	1	1	0	0	0	2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	2	0	2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	1	0	1	0	0	0	2
Counsyl	0	0	1	0	0	0	1
Sema4, Sema4	0	1	0	0	0	0	1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	0	1	0	0	0	0	1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris	0	1	0	0	0	0	1
GenomeConnect, ClinGen	0	0	0	0	0	1	1
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University	0	1	0	0	0	0	1
Genetics Institute, Tel Aviv Sourasky Medical Center	1	0	0	0	0	0	1
Paris Brain Institute, Inserm - ICM	1	0	0	0	0	0	1

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