ClinVar Miner

Variants studied for Noonan syndrome with multiple lentigines

Included ClinVar conditions (12):
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
49 8 145 15 67 1 282

Gene and significance breakdown #

Total genes and gene combinations: 6
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 36 2 66 4 28 0 136
RAF1 8 3 42 6 24 0 82
BRAF 5 3 31 5 13 1 56
PTPN11, RPL6 0 0 2 0 2 0 4
MAP2K2 0 0 2 0 0 0 2
MKRN2, RAF1 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 0 0 124 13 66 0 203
Fulgent Genetics,Fulgent Genetics 21 3 9 1 0 0 34
GeneReviews 15 0 0 0 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 14 0 0 0 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 6 0 3 0 2 0 11
OMIM 9 0 0 0 0 0 9
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 8 1 0 0 0 0 9
Baylor Genetics 4 0 1 0 0 0 5
Mendelics 1 2 2 0 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 3 1 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
Integrated Genetics/Laboratory Corporation of America 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 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
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
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 0 0 0 0 1
Blueprint Genetics 1 0 0 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 1 0 0 0 0 0 1
Institute of Molecular Biology and Genetics, Federal Almazov North-West Medical Research Centre 1 0 0 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 1

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