ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.606G>A (p.Leu202=)

gnomAD frequency: 0.00066  dbSNP: rs140084192
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723553 SCV000114126 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000723553 SCV000532673 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV001088477 SCV000559437 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002354284 SCV002654711 likely benign Cardiovascular phenotype 2019-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004542795 SCV004770024 likely benign FKRP-related disorder 2019-10-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000082180 SCV001920555 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000723553 SCV001975555 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001831885 SCV002088965 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2021-07-13 no assertion criteria provided clinical testing

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.