ClinVar Miner

Variants studied for Fraser syndrome 1

Included ClinVar conditions (1):
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 total
16 2 390 105 80 585

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 15 2 181 64 44 300
FREM2 1 0 160 33 29 222
GRIP1 0 0 49 8 7 63

Submitter and significance breakdown #

Total submitters: 13
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 387 103 74 563
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
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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Molecular Diagnostics Laboratory,M Health: 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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