ClinVar Miner

Variants studied for Pseudohypoparathyroidism type I A

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
34 19 9 0 1 62

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
GNAS 34 19 9 1 62

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance benign total
Genetics of Obesity Study, University of Cambridge 19 0 0 0 19
3billion, Medical Genetics 4 2 2 0 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 2 0 6
Suzhou Clinical Center for Rare Diseases in Children, Children's Hospital of Soochow University 0 4 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 1 2 0 0 3
Mendelics 2 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 1 0 1
Genome-Nilou Lab 0 0 0 1 1
DASA 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 1
Laboratory of Medical and Molecular Genetics, The National Medical Research Center for Endocrinology 1 0 0 0 1
Genetic Laboratory, Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University 0 1 0 0 1
Pediatric Department, Beijing Jishuitan Hospital, Capital Medical University 0 1 0 0 1
Servicio de Genética Del Instituto Nacional de Salud Del Niño, Ministerio de Salud 0 1 0 0 1

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