ClinVar Miner

Variants studied for Noonan syndrome 5

Included ClinVar conditions (3):
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
12 7 70 20 6 2 109

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAF1 12 7 67 19 6 2 105
MKRN2, RAF1 0 0 2 1 0 0 3
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: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Illumina Laboratory Services, Illumina 0 0 45 14 5 0 64
Fulgent Genetics, Fulgent Genetics 3 0 13 4 1 0 21
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 2 2 0 0 6
OMIM 4 0 0 0 0 0 4
Baylor Genetics 3 0 1 0 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 3 0 0 0 4
New York Genome Center 0 0 4 0 0 0 4
3billion 1 1 1 0 0 0 3
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 2 0 0 0 0 0 2
Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP) 0 0 0 0 0 2 2
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 1 1 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Institute of Human Genetics, Cologne University 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 1 0 0 0 1
Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 1 0 0 0 1
DASA 1 0 0 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 1 0 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1
Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province 1 0 0 0 0 0 1

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