ClinVar Miner

Variants in gene FRAS1

Minimum submission review status: Collection method:
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Gene type:
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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
24 9 239 79 64 3 390

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Cryptophthalmos syndrome 15 2 181 64 44 0 300
not provided 9 7 65 4 1 0 86
not specified 0 0 5 12 44 0 58
Congenital diaphragmatic hernia 0 0 0 0 0 3 3
Anophthalmia - microphthalmia 0 0 0 1 0 0 1
Rieger syndrome 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor total
Illumina Clinical Services Laboratory,Illumina 0 0 179 62 39 0 280
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 6 0 48 7 18 0 79
PreventionGenetics 0 0 0 0 32 0 32
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 25 0 27
GeneDx 3 5 17 1 0 0 26
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3 0 1 4 1 0 9
OMIM 8 0 0 0 0 0 8
Genetic Services Laboratory, University of Chicago 2 0 2 4 0 0 8
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
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 3 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
Mayo Clinic Genetic Testing 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
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 0 1

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