ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.249C>T (p.Ala83=) (rs149030303)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082174 SCV000114120 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082174 SCV000151161 benign not specified 2013-12-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000082174 SCV000269110 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala83Ala in exon 4 of FKRP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1.3% (115/8570) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs149030303).
Invitae RCV000233707 SCV000290696 benign Walker-Warburg congenital muscular dystrophy 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082174 SCV000314265 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000082174 SCV000513038 benign not specified 2015-05-12 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.

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.