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
24 13 278 256 10 572

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 total
HRAS, LRRC56 24 13 264 255 10 557
HRAS 0 0 10 0 0 10
BRAF 0 0 1 1 0 2
CDHR5, CEND1, DEAF1, DRD4, EPS8L2, GATD1, HRAS, IRF7, LMNTD2, LRRC56, MIR210, MIR210HG, PHRF1, PIDD1, PNPLA2, RASSF7, RPLP2, SCT, SLC25A22, TALDO1, TMEM80 0 0 1 0 0 1
SPRED1 0 0 1 0 0 1
TNNT2 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 46
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 12 4 268 255 10 549
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 2 1 5 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 1 0 0 0 7
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 0 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 5
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 4 1 0 5
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
Illumina Laboratory Services, Illumina 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 2 0 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 1 0 1 0 0 2
3billion 2 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 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 Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 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
Clinical Genetics and Genomics, Karolinska University Hospital 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
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 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
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
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 1

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