ClinVar Miner

Variants studied for Prader-Willi syndrome due to point mutation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
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
18 8 18 1 0 1 45

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign not provided total
MAGEL2 18 8 14 1 1 41
SIM1 0 0 4 0 0 4

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign not provided total
OMIM 10 0 0 0 0 10
Baylor Genetics 3 0 7 0 0 10
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 2 6 0 0 0 8
Illumina Clinical Services Laboratory,Illumina 0 0 5 0 0 5
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 4 0 0 0 0 4
Fulgent Genetics,Fulgent Genetics 1 0 1 1 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 2 0 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 1 0 0 1
Centogene AG - the Rare Disease Company 0 1 0 0 0 1
Mendelics 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Undiagnosed Diseases Network,NIH 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1

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