ClinVar Miner

Variants studied for LEOPARD syndrome 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
49 19 118 20 30 9 232

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 benign not provided total
PTPN11 49 19 116 20 29 9 229
PTPN11, RPL6 0 0 2 0 1 0 3

Submitter and significance breakdown #

Total submitters: 42
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fulgent Genetics, Fulgent Genetics 28 9 58 19 1 0 115
Illumina Laboratory Services, Illumina 0 0 53 1 29 0 83
Baylor Genetics 19 1 2 0 0 0 22
Juno Genomics, Hangzhou Juno Genomics, Inc 12 3 0 0 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 1 0 0 0 0 12
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 2 0 2 0 9
GeneReviews 0 0 0 0 0 9 9
Institute of Human Genetics, University of Leipzig Medical Center 4 1 0 0 0 0 5
OMIM 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 3 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 1 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 3 0 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
3billion 2 0 0 0 0 0 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 2 0 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 2 0 0 0 0 0 2
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Department of Rehabilitation, Anhui Provincial Children's Hospital 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 1 0 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 0 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 1 0 0 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 1 0 0 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Laboratory of Research in Genomics, Genetics and Bioinformatics, Hospital Infantil de Mexico Federico Gomez 1 0 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Mendelics 1 0 0 0 0 0 1
New York Genome Center 1 0 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1

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