ClinVar Miner

Variants studied for symptomatic form of fragile X syndrome in female carrier

Included ClinVar conditions (2):
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 other total
10 3 7 3 7 2 32

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign other total
FMR1 8 3 7 2 6 2 28
ADGB, ADGB-DT, GRM1, LOC114004398, LOC129997388, RAB32 1 0 0 0 0 0 1
FMR1, FRAXA, LOC107032825 0 0 0 0 1 0 1
FMR1, FRAXA, LOC107032825, LOC129929053 1 0 0 0 0 0 1
FMR1, LOC107032825 0 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign other total
OMIM 5 0 0 0 0 0 5
Natera, Inc. 0 0 0 1 4 0 5
American College of Medical Genetics and Genomics (ACMG) 1 0 0 0 1 2 4
Fulgent Genetics, Fulgent Genetics 0 0 0 1 2 0 3
Baylor Genetics 0 1 1 0 0 0 2
Mendelics 0 0 0 1 1 0 2
Elsea Lab, Dept of Molecular and Human Genetics, Baylor College of Medicine 2 0 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
MIND Institute, Wet lab, University of California Davis 1 0 0 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 1 0 0 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 1 0 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.