ClinVar Miner

Variants in gene FRAS1

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Minimum submission review status: Collection method:
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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
210 163 1450 1762 224 86 3544

Condition and significance breakdown #

Total conditions: 41
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 157 68 440 1661 200 0 2430
Fraser syndrome 1 71 100 796 102 123 0 1147
Inborn genetic diseases 1 0 561 31 0 0 593
FRAS1-related disorder 5 4 33 131 16 0 189
not specified 1 0 49 43 94 0 174
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 15 15
Ovarian serous cystadenocarcinoma 0 0 0 0 0 14 14
Uterine corpus endometrial carcinoma 0 0 0 0 0 14 14
Cervical cancer 0 0 0 0 0 10 10
Cholangiocarcinoma 0 0 0 0 0 6 6
Clear cell carcinoma of kidney 0 0 0 0 0 6 6
Congenital anomaly of kidney and urinary tract 2 2 2 0 0 0 6
Gastric cancer 0 0 0 0 0 6 6
Malignant tumor of esophagus 0 0 0 0 0 6 6
Nonpapillary renal cell carcinoma 0 0 0 0 0 6 6
Uterine carcinosarcoma 0 0 0 0 0 6 6
Cryptophthalmos syndrome 0 5 0 0 0 0 5
Hepatocellular carcinoma 0 0 0 0 0 5 5
Lung cancer 0 0 0 0 0 5 5
Sarcoma 0 0 0 0 0 5 5
Familial cancer of breast 0 0 0 0 0 4 4
Malignant tumor of urinary bladder 0 0 0 0 0 4 4
Congenital diaphragmatic hernia 3 0 0 0 0 0 3
Renal agenesis 3 0 0 0 0 0 3
Squamous cell lung carcinoma 0 0 0 0 0 3 3
Colon adenocarcinoma 0 0 0 0 0 2 2
Familial pancreatic carcinoma 0 0 0 0 0 2 2
Malignant lymphoma, large B-cell, diffuse 0 0 0 0 0 2 2
Thymoma 0 0 0 0 0 2 2
Acute myeloid leukemia 0 0 0 0 0 1 1
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Colorectal cancer 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Microcephaly 0 0 1 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 1
Orofacial cleft 1 1 0 0 0 0 0 1
Ovarian cancer 0 0 0 0 0 1 1
Papillary renal cell carcinoma type 1 0 0 0 0 0 1 1
Rieger anomaly 0 0 0 1 0 0 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Usher syndrome type 2C 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 74
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 149 53 314 1611 184 0 2311
Fulgent Genetics, Fulgent Genetics 12 63 541 62 3 0 681
Ambry Genetics 1 0 561 31 0 0 593
Illumina Laboratory Services, Illumina 0 0 260 41 113 0 414
PreventionGenetics, part of Exact Sciences 5 4 33 131 46 0 219
Breakthrough Genomics, Breakthrough Genomics 0 0 10 18 107 0 135
GeneDx 9 6 103 2 9 0 129
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 86 86
Mayo Clinic Laboratories, Mayo Clinic 0 0 7 14 63 0 84
Eurofins Ntd Llc (ga) 6 0 48 7 18 0 79
CeGaT Center for Human Genetics Tuebingen 1 3 10 47 10 0 71
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 3 9 34 23 2 0 71
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 13 36 0 51
Department of Pathology and Laboratory Medicine, Sinai Health System 1 6 31 4 0 0 42
Revvity Omics, Revvity 4 8 27 2 0 0 41
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 29 1 6 0 0 0 36
Genetic Services Laboratory, University of Chicago 2 2 14 8 6 0 32
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 6 17 6 0 30
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 23 0 30
Genome-Nilou Lab 0 0 0 0 23 0 23
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 5 18 0 0 23
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 7 2 1 0 0 11
3billion 3 1 3 2 0 0 9
Baylor Genetics 3 2 3 0 0 0 8
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 4 1 0 8
Gharavi Laboratory, Columbia University 2 2 3 0 0 0 7
OMIM 7 0 0 0 0 0 7
Molecular Genetics laboratory, Necker Hospital 3 3 0 0 0 0 6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 3 1 1 0 0 0 5
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 3 2 0 5
Variantyx, Inc. 2 3 0 0 0 0 5
Daryl Scott Lab, Baylor College of Medicine 4 0 0 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 3 0 0 0 4
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 2 0 0 0 4
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 3
Clinical Genomics Laboratory, Stanford Medicine 0 0 3 0 0 0 3
Dasa 1 2 0 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 3 0 0 0 0 0 3
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 1 0 1 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Bionano Laboratories 1 0 1 0 0 0 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 2
Centre for Genomic and Experimental Medicine, University of Edinburgh 2 0 0 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 0 2
First Genomix Gene Laboratory, Genetic Diagnostics Department 1 1 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
MVZ Martinsried, Medicover Genetics 0 0 2 0 0 0 2
MVZ Praenatalmedizin und Genetik Nuernberg 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 1 0 0 1
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 1 0 0 0 0 0 1
Genetics Research Group, Universidad San Francisco de Quito 1 0 0 0 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Laboratorio de Genética Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain), Hospitales Universitarios Virgen de las Nieves y Clínico San Cecilio (Granada, Spain) 0 1 0 0 0 0 1
Laboratory of Dr. Barbara Vona, University Medical Center Göttingen 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 1 0 0 0 1
Manipal Hospitals, Manipal Hospital 1 0 0 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 0 0 1 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1

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