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
58 25 139 247 13 1 464

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 58 24 138 247 13 1 462
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 56 15 119 246 11 0 447
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 Institute Rare Disease Group, Broad Institute 1 0 1 0 0 0 2
Counsyl 0 0 1 0 0 0 1
Sema4, Sema4 0 1 0 0 0 0 1
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & 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
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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