ClinVar Miner

Variants in gene combination HRAS, LRRC56

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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
36 38 313 287 53 7 659

Condition and significance breakdown #

Total conditions: 73
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Costello syndrome 23 12 260 239 10 0 535
not provided 20 7 35 53 42 2 151
not specified 0 0 27 30 16 3 70
Cardiovascular phenotype 1 0 11 38 3 0 53
HRAS-related condition 4 1 7 18 2 0 32
Noonan syndrome and Noonan-related syndrome 5 3 4 5 7 0 24
RASopathy 6 0 1 2 10 0 19
Hereditary cancer-predisposing syndrome 0 0 10 6 2 0 18
Large congenital melanocytic nevus; Linear nevus sebaceous syndrome; Malignant tumor of urinary bladder; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2 5 0 7 4 0 0 16
Lung adenocarcinoma 0 15 0 0 0 0 15
Neoplasm of the large intestine 0 14 0 0 0 1 15
Acute myeloid leukemia 0 13 0 0 0 0 13
Gastric adenocarcinoma 0 13 0 0 0 0 13
Multiple myeloma 0 13 0 0 0 0 13
Squamous cell lung carcinoma 0 8 4 1 0 0 13
Thyroid tumor 5 7 0 0 0 0 12
Breast neoplasm 0 11 0 0 0 0 11
Malignant melanoma of skin 0 11 0 0 0 0 11
Transitional cell carcinoma of the bladder 0 11 0 0 0 0 11
Hepatocellular carcinoma 0 10 0 0 0 0 10
Malignant neoplasm of body of uterus 0 10 0 0 0 0 10
Neoplasm of uterine cervix 0 10 0 0 0 0 10
Pancreatic adenocarcinoma 0 10 0 0 0 0 10
Squamous cell carcinoma of the head and neck 0 9 0 0 0 0 9
Squamous cell carcinoma of the skin 0 9 0 0 0 0 9
Neoplasm 0 8 0 0 0 0 8
B-cell chronic lymphocytic leukemia 0 7 0 0 0 0 7
Noonan syndrome 1 0 3 3 0 0 7
Inborn genetic diseases 3 0 3 0 0 0 6
Lip and oral cavity carcinoma 6 0 0 0 0 0 6
Prostate cancer, hereditary, 1 0 0 6 0 0 0 6
Prostate adenocarcinoma 0 5 0 0 0 0 5
Vascular Tumors Including Pyogenic Granuloma 0 3 2 0 0 0 5
Epidermal nevus 4 0 0 0 0 0 4
Myopathy, congenital, with excess of muscle spindles 4 0 0 0 0 0 4
Nevus sebaceous 4 0 0 0 0 0 4
Adenoid cystic carcinoma 0 3 0 0 0 0 3
Carcinoma of esophagus 0 3 0 0 0 0 3
Glioblastoma 0 3 0 0 0 0 3
Myelodysplastic syndrome 0 3 0 0 0 0 3
Nasopharyngeal neoplasm 0 3 0 0 0 0 3
Non-immune hydrops fetalis 3 0 0 0 0 0 3
Ovarian serous cystadenocarcinoma 0 3 0 0 0 0 3
Papillary renal cell carcinoma, sporadic 0 3 0 0 0 0 3
Uterine carcinosarcoma 0 3 0 0 0 0 3
Epidermolytic nevus 1 0 1 0 0 0 2
KA-like vemurafenib-induced squamous lesions 2 0 0 0 0 0 2
Linear nevus sebaceous syndrome 2 0 0 0 0 0 2
Noonan syndrome 3 0 2 0 0 0 0 2
Rhabdomyosarcoma 2 0 0 0 0 0 2
Arteriovenous malformation 1 0 0 0 0 0 1
Congenital fibrosis of extraocular muscles 0 0 1 0 0 0 1
Costello syndrome, severe 1 0 0 0 0 0 1
Epidermal nevus with urothelial cancer, somatic 1 0 0 0 0 0 1
Intellectual disability 0 0 1 0 0 0 1
Linear nevus sebaceous syndrome; Costello syndrome 0 0 0 0 0 1 1
Malignant tumor of urinary bladder 1 0 0 0 0 0 1
Melanoma 0 1 0 0 0 0 1
NEVUS SPILUS, SOMATIC 1 0 0 0 0 0 1
Non-small cell lung carcinoma 0 1 0 0 0 0 1
Noonan syndrome 1 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 1 0 1
Parathyroid gland adenoma; Hypophosphatemic rickets 0 0 1 0 0 0 1
Pulmonic stenosis; Supravalvar aortic stenosis 0 0 0 1 0 0 1
SPITZ NEVUS, SOMATIC 1 0 0 0 0 0 1
Salivary gland neoplasm 1 0 0 0 0 0 1
See cases 1 0 0 0 0 0 1
Spermatocytic seminoma 1 0 0 0 0 0 1
Thymoma 0 1 0 0 0 0 1
Thyroid cancer, nonmedullary, 2 1 0 0 0 0 0 1
Urinary bladder carcinoma 0 1 0 0 0 0 1
Wooly hair nevus 1 0 0 0 0 0 1
cutaneous-skeletal hypophosphatemia syndrome 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 83
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 10 4 253 239 10 0 516
GeneDx 19 4 29 35 42 0 129
Ambry Genetics 3 0 14 38 3 0 58
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 3 13 8 11 0 44
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 7 5 12 11 5 2 42
PreventionGenetics, part of Exact Sciences 4 1 7 24 5 0 41
CeGaT Center for Human Genetics Tuebingen 4 0 1 26 6 0 37
Genome Diagnostics Laboratory, The Hospital for Sick Children 5 3 4 5 7 0 24
Database of Curated Mutations (DoCM) 5 23 0 0 0 1 24
ClinGen RASopathy Variant Curation Expert Panel 4 1 3 2 10 0 20
OMIM 19 0 0 0 0 0 19
Sema4, Sema4 0 0 10 6 2 0 18
Fulgent Genetics, Fulgent Genetics 4 0 7 4 0 0 15
Baylor Genetics 6 1 5 0 1 0 13
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 3 0 2 0 5 0 10
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 6 1 1 0 0 0 8
Revvity Omics, Revvity 2 1 5 0 0 0 8
Service de Génétique Moléculaire, Hôpital Robert Debré 0 0 5 3 0 0 8
Yale Center for Mendelian Genomics, Yale University 3 4 2 0 0 0 8
Blueprint Genetics 3 1 2 1 0 0 7
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 0 2 3 0 6
Institute of Medical Sciences, Banaras Hindu University 6 0 0 0 0 0 6
Laboratory of Virology, Oncology, Biosciences and Environment, Faculty of Sciences and Techniques, Mohammedia- University Hassan II of Casablanca 0 0 6 0 0 0 6
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 2 0 0 2 1 0 5
Faculté Pluridciplinaire Nador, Université Mohamed Premier 0 0 4 1 0 0 5
Clinical Genetics, Academic Medical Center 0 0 0 0 4 0 4
Eurofins Ntd Llc (ga) 1 0 0 0 3 0 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 4 0 0 0 0 0 4
Genomic Medicine Lab, University of California San Francisco 4 0 0 0 0 0 4
Clinical Genomics Laboratory, Washington University in St. Louis 2 0 1 0 0 0 3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 0 3 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 1 0 1 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
Illumina Laboratory Services, Illumina 2 0 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 2 0 0 0 0 2
AiLife Diagnostics, AiLife Diagnostics 0 0 2 0 0 0 2
3billion 2 0 0 0 0 0 2
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 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
Athena Diagnostics Inc 1 0 0 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
MGZ Medical Genetics Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
ITMI 0 0 0 0 0 1 1
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf 1 0 0 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 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
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 1
Institute of Medical Genetics, University of Zurich 1 0 0 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 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
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 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
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 1 0 0 0 0 0 1
Kids Research, The Children's Hospital at Westmead 1 0 0 0 0 0 1
Breda Genetics srl 1 0 0 0 0 0 1
Arin Greene Laboratory, Boston Children's Hospital, Harvard Medical School 1 0 0 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genome-Nilou Lab 0 0 0 0 1 0 1
Molecular Genetics, Centre for Human Genetics 1 0 0 0 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 0 1
Department of Medical Oncology, City of Hope 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 0 1
Division Of Personalized Genomic Medicine, Columbia University Irving Medical Center 1 0 0 0 0 0 1
Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi 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
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University 0 0 0 0 1 0 1

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