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 total
33 2 62 2 30 129

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 total
PTPN11 33 2 60 2 28 125
PTPN11, RPL6 0 0 2 0 2 4

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 53 1 29 83
Fulgent Genetics,Fulgent Genetics 16 0 3 1 0 20
GeneReviews 9 0 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 5 0 2 0 2 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 6 1 0 0 0 7
OMIM 5 0 0 0 0 5
Baylor Genetics 3 0 1 0 0 4
Institute of Human Genetics, University of Leipzig Medical Center 2 1 0 0 0 3
Phosphorus, Inc. 0 0 3 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 2 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 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 1 0 0 0 0 1

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