ClinVar Miner

Variants studied for autosomal recessive limb-girdle muscular dystrophy type 2F

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 total
28 15 209 227 26 490

Gene and significance breakdown #

Total genes and gene combinations: 1
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
SGCD 28 15 209 227 26 490

Submitter and significance breakdown #

Total submitters: 13
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 26 9 144 204 15 398
Genome-Nilou Lab 2 3 98 36 12 151
Fulgent Genetics, Fulgent Genetics 1 0 72 5 2 80
Counsyl 1 6 29 6 1 43
OMIM 5 0 0 0 0 5
Mendelics 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 1
Athena Diagnostics 0 0 0 0 1 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 1
CSER _CC_NCGL, University of Washington 0 0 0 1 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Myriad Genetics, Inc. 0 1 0 0 0 1
New York Genome Center 0 0 1 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.