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
29 32 161 112 27 6 319

Condition and significance breakdown #

Total conditions: 59
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Costello syndrome 15 7 133 70 7 0 228
not provided 16 5 19 32 11 2 82
not specified 0 0 22 30 16 3 65
Rasopathy 6 0 1 2 10 0 19
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
Adenocarcinoma of stomach 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
Neoplasm of the thyroid gland 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
Chronic lymphocytic leukemia 0 7 0 0 0 0 7
Noonan syndrome 1 0 3 3 0 0 7
Lip and oral cavity carcinoma 6 0 0 0 0 0 6
Adenocarcinoma of prostate 0 5 0 0 0 0 5
Vascular Tumors Including Pyogenic Granuloma 0 3 2 0 0 0 5
none provided 1 0 0 0 4 0 5
Large congenital melanocytic nevus; Epidermal nevus syndrome; Urinary bladder cancer; Costello syndrome; Epidermal nevus; Thyroid cancer, nonmedullary, 2 3 0 0 1 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
Epidermal nevus 3 0 0 0 0 0 3
Glioblastoma 0 3 0 0 0 0 3
Myelodysplastic syndrome 0 3 0 0 0 0 3
Nasopharyngeal Neoplasms 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
Epidermal nevus syndrome 2 0 0 0 0 0 2
Inborn genetic diseases 2 0 0 0 0 0 2
Noonan syndrome 3 0 2 0 0 0 0 2
Rhabdomyosarcoma (disease) 2 0 0 0 0 0 2
Arteriovenous malformation 1 0 0 0 0 0 1
Bladder carcinoma 0 1 0 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
Melanoma 0 1 0 0 0 0 1
NEVUS SPILUS, SOMATIC 1 0 0 0 0 0 1
Nevus, woolly hair 1 0 0 0 0 0 1
Non-small cell lung cancer 0 1 0 0 0 0 1
Pulmonic stenosis (disease); Supravalvar aortic stenosis 0 0 0 1 0 0 1
SPITZ NEVUS, SOMATIC 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 cancer 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 7 2 125 81 8 0 223
GeneDx 17 4 15 23 15 0 74
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 7 5 12 11 5 2 42
Integrated Genetics/Laboratory Corporation of America 6 3 11 6 10 0 36
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
Baylor Genetics 4 0 5 0 1 0 10
PreventionGenetics, PreventionGenetics 0 0 0 6 3 0 9
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 6 1 1 0 0 0 8
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 5 3 0 0 8
Blueprint Genetics 3 1 2 1 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 0 1 0 4 0 6
Yale Center for Mendelian Genomics,Yale University 1 3 2 0 0 0 6
Institute of Medical Sciences, Banaras Hindu University 6 0 0 0 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 3 0 1 1 0 0 5
Faculté Pluridciplinaire Nador,Université Mohamed Premier 0 0 4 1 0 0 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 1 0 0 0 3 0 4
Fulgent Genetics,Fulgent Genetics 3 0 0 1 0 0 4
Genomic Medicine Lab, University of California San Francisco 4 0 0 0 0 0 4
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
Ambry Genetics 2 0 0 0 0 0 2
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 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
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 1 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
Kids Research, The Children's Hospital at Westmead 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
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 1 0 0 0 0 0 1

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