ClinVar Miner

Variants studied for Fraser syndrome 1

Coded as:
Minimum submission review status: Collection method:
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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 total
45 5 313 55 135 546

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FRAS1 45 4 285 46 122 496
FREM2 0 1 15 2 7 25
GRIP1 0 0 13 7 6 25

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 305 54 121 479
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 30 2 6 0 0 38
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 0 0 2 33 35
OMIM 8 0 0 0 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 0 8 8
Mendelics 0 0 0 0 6 6
Fulgent Genetics,Fulgent Genetics 0 0 3 0 0 3
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 2 1 0 0 0 3
Genetic Services Laboratory,University of Chicago 2 0 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Ege University Pediatric Genetics,Ege University 1 0 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 0 0 1
Medical Genetics,Necip Fazıl Sehir Hastanesi 1 0 0 0 0 1

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