ClinVar Miner

Variants studied for Costello syndrome

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 total
17 7 143 71 7 240

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HRAS, LRRC56 17 7 133 70 7 229
HRAS 0 0 7 0 0 7
BRAF 0 0 1 1 0 2
SPRED1 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 7 2 132 70 7 218
OMIM 15 0 0 0 0 15
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 5 0 0 0 12
Baylor Genetics 2 0 5 0 0 7
ClinGen RASopathy Variant Curation Expert Panel 3 1 2 0 0 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 4 0 1 0 0 5
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 4 1 0 5
Integrated Genetics/Laboratory Corporation of America 3 1 0 0 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 1 0 4
Blueprint Genetics 2 1 1 0 0 4
Center for Human Genetics, Inc,Center for Human Genetics, Inc 1 0 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 1 0 0 0 0 1

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