ClinVar Miner

Variants studied for Focal dermal hypoplasia

Coded as:
Minimum submission review status: Collection method:
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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 total
18 12 7 0 0 37

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
PORCN 18 12 7 37

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance total
OMIM 5 0 0 5
Baylor Genetics 2 0 1 3
Institute for Human Genetics, University Medical Center Freiburg 1 0 1 2
Revvity Omics, Revvity 2 0 0 2
Fulgent Genetics, Fulgent Genetics 1 0 1 2
Daryl Scott Lab, Baylor College of Medicine 2 0 0 2
Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 1 1 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 2
Department of Pediatrics, Division of Pediatric Genetics, Necmettin Erbakan University Faculty of Medicine 0 1 1 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 1 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 1
Laboratory of Molecular Genetics, CHU RENNES 0 1 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 1 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 1

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