ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.585C>T (p.Asp195=) (rs75079578)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082179 SCV000114125 benign not specified 2012-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082179 SCV000151164 benign not specified 2015-11-11 criteria provided, single submitter clinical testing
Invitae RCV000232394 SCV000290701 benign Walker-Warburg congenital muscular dystrophy 2018-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082179 SCV000314270 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000082179 SCV000513039 benign not specified 2015-07-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000576800 SCV000677300 benign Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2017-05-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757298 SCV000885463 benign not provided 2017-08-18 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.