ClinVar Miner

Variants studied for LEOPARD syndrome 1

Included ClinVar conditions (4):
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
45 9 89 19 30 9 191

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 45 9 87 19 29 9 188
PTPN11, RPL6 0 0 2 0 1 0 3

Submitter and significance breakdown #

Total submitters: 29
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 53 1 29 0 83
Fulgent Genetics, Fulgent Genetics 28 4 29 18 1 0 80
Baylor Genetics 15 1 2 0 0 0 18
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 11 1 0 0 0 0 12
GeneReviews 0 0 0 0 0 9 9
Centre for Mendelian Genomics, University Medical Centre Ljubljana 5 0 2 0 2 0 9
OMIM 5 0 0 0 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 2 0 1 0 0 0 3
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 3 0 0 0 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 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
Molecular Genetics Lab, CHRU Brest 1 1 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 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
Center of Genomic medicine, Geneva, University Hospital of Geneva 1 0 0 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 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
Daryl Scott Lab, Baylor College of Medicine 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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