ClinVar Miner

Variants studied for Noonan syndrome with multiple lentigines

Included ClinVar conditions (14):
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
60 18 192 60 69 15 394

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
PTPN11 50 9 93 21 29 9 199
RAF1 6 4 51 10 24 4 94
BRAF 4 5 34 28 13 2 83
BRAF, LOC126860202 0 0 6 1 1 0 8
MKRN2, RAF1 0 0 2 0 1 0 3
PTPN11, RPL6 0 0 2 0 1 0 3
MAP2K2 0 0 2 0 0 0 2
BRAF, LOC129999507 0 0 1 0 0 0 1
LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 124 13 66 0 203
Fulgent Genetics, Fulgent Genetics 33 8 55 46 3 0 145
Baylor Genetics 16 1 2 0 0 0 19
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 13 3 4 0 0 0 19
GeneReviews 0 0 0 0 0 15 15
Laboratory for Molecular Medicine, Mass General Brigham 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
Mendelics 2 2 1 0 1 0 6
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 0 0 0 0 0 4
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 3 1 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 4 0 0 0 0 0 4
New York Genome Center 0 0 4 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
MGZ Medical Genetics Center 1 0 1 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
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
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 1 0 0 0 0 0 1
GenomeConnect - CFC International 0 0 0 0 0 1 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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