ClinVar Miner

Variants in gene FRAS1

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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
62 19 356 145 171 3 676

Condition and significance breakdown #

Total conditions: 9
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Fraser syndrome 1 50 7 288 46 122 0 507
not provided 15 12 80 110 80 0 276
not specified 0 0 5 12 44 0 58
Congenital anomalies of kidney and urinary tract 2 0 3 0 0 0 5
Congenital diaphragmatic hernia 0 0 0 0 0 3 3
Anophthalmia-microphthalmia syndrome 0 0 0 1 0 0 1
Microcephaly 0 0 1 0 0 0 1
Rieger syndrome 0 0 0 1 0 0 1
Usher syndrome, type 2C 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 36
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 278 45 119 0 442
Invitae 2 2 4 101 80 0 189
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 6 0 48 7 18 0 79
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 30 2 6 0 0 0 38
PreventionGenetics, PreventionGenetics 0 0 0 0 32 0 32
GeneDx 4 5 17 1 0 0 27
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 2 25 0 27
CeGaT Praxis fuer Humangenetik Tuebingen 1 3 4 5 0 0 13
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 4 1 0 9
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 9 0 0 0 9
OMIM 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 2 0 2 4 0 0 8
Sydney Genome Diagnostics,Children's Hospital Westmead 2 0 3 0 0 0 5
Baylor Genetics 1 1 2 0 0 0 4
Fulgent Genetics,Fulgent Genetics 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
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 1 0 0 0 2
Lineagen, Inc 1 0 1 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 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
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
Mendelics 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Manipal Health Enterprises Pvt Ltd, Manipal Hospital 1 0 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 1 0 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 0 0 1 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 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
School of Computer Science,University of Waterloo 1 0 0 0 0 0 1

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