ClinVar Miner

Variants studied for Costello syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
26 17 289 270 10 1 598

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
HRAS, LRRC56 25 16 275 269 10 1 581
HRAS 0 0 10 0 0 0 10
BRAF 0 0 1 1 0 0 2
BRAF, LOC126860202 0 1 0 0 0 0 1
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 0 1
PTPN11 1 0 0 0 0 0 1
SPRED1 0 0 1 0 0 0 1
TNNT2 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 57
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 4 279 266 10 0 571
Fulgent Genetics, Fulgent Genetics 4 0 12 4 0 0 20
OMIM 15 0 0 0 0 0 15
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 5 0 0 0 0 12
Baylor Genetics 4 1 5 0 0 0 10
Revvity Omics, Revvity 2 1 4 1 0 0 8
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 6 2 0 0 0 0 8
Juno Genomics, Hangzhou Juno Genomics, Inc 5 1 0 0 0 0 6
Variantyx, Inc. 5 1 0 0 0 0 6
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 4 1 0 0 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 5 0 0 0 0 0 5
Blueprint Genetics 2 1 1 0 0 0 4
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 4 0 0 0 0 0 4
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
3billion 2 0 0 0 0 0 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 1 0 1 0 0 0 2
Dasa 2 0 0 0 0 0 2
Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 2 0 0 0 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 0 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University 2 0 0 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 1 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 1 0 0 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 1 0 0 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 1 0 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 1 0 0 0 0 0 1
Costello Syndrome Team Work, Hebron Governmental Hospital 0 1 0 0 0 0 1
Department of Human Genetics, Hannover Medical School 1 0 0 0 0 0 1
Department of Human Genetics, University Hospital Bern, Inselspital 0 1 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Genomic Medicine Lab, University of California San Francisco 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital 1 0 0 0 0 0 1

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