ClinVar Miner

Variants studied for Costello syndrome

Coded as:
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
23 12 271 240 10 547

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
HRAS, LRRC56 23 12 260 239 10 535
HRAS 0 0 8 0 0 8
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: 39
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 10 4 261 239 10 524
OMIM 13 0 0 0 0 13
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 5 0 0 0 12
Baylor Genetics 4 1 5 0 0 10
Revvity Omics, Revvity Omics 2 1 5 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 7
ClinGen RASopathy Variant Curation Expert Panel 3 1 2 0 0 6
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 0 1 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 4 1 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 4
Blueprint Genetics 2 1 1 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
3billion 2 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 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
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 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
Breda Genetics srl 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 1
Genome-Nilou Lab 0 0 0 0 1 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.