ClinVar Miner

Variants in gene FRAS1

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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 risk factor total
178 80 738 1568 224 3 2545

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
not provided 132 49 354 1486 184 0 2132
Fraser syndrome 1 59 30 353 87 125 0 631
Inborn genetic diseases 1 0 153 12 0 0 166
FRAS1-related condition 3 3 19 114 16 0 155
not specified 0 0 34 23 66 0 116
Congenital anomaly of kidney and urinary tract 2 2 2 0 0 0 6
Congenital diaphragmatic hernia 0 0 0 0 0 3 3
Renal agenesis 3 0 0 0 0 0 3
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
Myoepithelial tumor 0 0 1 0 0 0 1
Rieger anomaly 0 0 0 1 0 0 1
Usher syndrome type 2C 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 59
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Invitae 123 38 261 1453 184 0 2059
Illumina Laboratory Services, Illumina 0 0 273 43 117 0 433
PreventionGenetics, part of Exact Sciences 3 3 19 114 46 0 185
Ambry Genetics 1 0 153 12 0 0 166
Fulgent Genetics, Fulgent Genetics 7 7 96 48 3 0 161
GeneDx 9 7 60 2 9 0 87
Eurofins Ntd Llc (ga) 6 0 48 7 18 0 79
Genome Diagnostics Laboratory, University Medical Center Utrecht 1 0 1 13 36 0 51
CeGaT Center for Human Genetics Tuebingen 1 3 6 27 2 0 39
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 7 19 7 2 0 36
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 29 1 6 0 0 0 36
Revvity Omics, Revvity 4 4 25 2 0 0 35
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 2 5 23 0 30
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 6 17 6 0 30
Genetic Services Laboratory, University of Chicago 2 0 11 8 6 0 27
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 5 18 0 0 23
Genome-Nilou Lab 0 0 0 0 23 0 23
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 9 0 0 0 9
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 2 0 1 4 1 0 8
OMIM 7 0 0 0 0 0 7
Baylor Genetics 3 1 3 0 0 0 7
Molecular Genetics laboratory, Necker Hospital 3 3 0 0 0 0 6
Sydney Genome Diagnostics, Children's Hospital Westmead 2 0 2 0 0 0 4
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 0 3
Daryl Scott Lab, Baylor College of Medicine 0 0 0 0 0 3 3
Gharavi Laboratory, Columbia University 0 0 3 0 0 0 3
3billion 1 1 1 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 1 0 1 0 0 0 2
Bionano Laboratories 1 0 1 0 0 0 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 0 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 2 0 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
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 2 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 1 0 1 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 2 0 0 0 0 2
Shieh Lab, University of California, San Francisco 2 0 0 0 0 0 2
Institute of Medical Genetics, Medical University of Vienna 2 0 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 2 0 0 0 2
MGZ Medical Genetics Center 0 0 1 0 0 0 1
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories 0 0 1 0 0 0 1
Mendelics 0 0 0 0 1 0 1
Molecular Genetics Department, Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology 0 1 0 0 0 0 1
Manipal Hospitals, Manipal Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 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
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine 0 0 1 0 0 0 1
Ege University Pediatric Genetics, Ege University 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 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Medical Genetics, Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 0 1
School of Computer Science, University of Waterloo 1 0 0 0 0 0 1

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