ClinVar Miner

Variants studied for Pontocerebellar hypoplasia type 1A

Coded as:
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Gene type:
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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 26 139 258 14 1 480

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 25 138 258 14 1 478
CHMP1A 0 1 0 0 0 0 1
LOC130056407, VRK1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 59 16 119 257 12 0 463
Natera, Inc. 0 1 29 5 1 0 36
Illumina Laboratory Services, Illumina 0 0 19 0 3 0 22
Fulgent Genetics, Fulgent Genetics 0 2 3 1 0 0 6
Baylor Genetics 1 2 1 0 0 0 4
Genome-Nilou Lab 0 0 0 0 3 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 3 0 0 0 0 0 3
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 1 0 0 0 2
Centogene AG - the Rare Disease Company 0 2 0 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 1 0 0 0 2
OMIM 2 0 0 0 0 0 2
Counsyl 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 0 1 0 0 0 0 1
Genetics Institute, Tel Aviv Sourasky Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Institute of Pediatric Research, Children's Hospital of Soochow University, Soochow University 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Paris Brain Institute, Inserm - ICM 1 0 0 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1

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