ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.969C>T (p.Arg323=)

gnomAD frequency: 0.00062  dbSNP: rs532054402
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725724 SCV000338871 uncertain significance not provided 2017-09-14 criteria provided, single submitter clinical testing
Invitae RCV001081031 SCV000559443 likely benign Walker-Warburg congenital muscular dystrophy 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000725724 SCV000722781 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000725724 SCV001475119 likely benign not provided 2020-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379132 SCV002694275 likely benign Cardiovascular phenotype 2019-05-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Revvity Omics, Revvity RCV000725724 SCV003832660 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330622 SCV004038559 likely benign not specified 2023-08-19 criteria provided, single submitter 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.