ClinVar Miner

Variants studied for Fraser syndrome 2

Coded as:
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
15 8 243 30 80 373

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
FREM2 15 8 242 30 80 372
FREM2, LOC130009588 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 total
Illumina Laboratory Services, Illumina 0 0 235 30 78 343
Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand 4 1 0 0 0 5
Genome-Nilou Lab 0 0 0 0 5 5
OMIM 4 0 0 0 0 4
Neuberg Centre For Genomic Medicine, NCGM 0 1 3 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 2 0 0 0 1 3
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 2 0 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 2 0 0 0 0 2
Hainan Provincial Key Laboratory for Human Reproductive Medicine and Genetic Research 1 1 0 0 0 2
3billion 0 1 1 0 0 2
Baylor Genetics 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 1 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 1 0 0 1
Istanbul Faculty of Medicine, Istanbul University 0 1 0 0 0 1

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