ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.135C>T (p.Ala45=) (rs2287717)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 14
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082171 SCV000114117 benign not specified 2013-10-11 criteria provided, single submitter clinical testing
GeneDx RCV000082171 SCV000168553 benign not specified 2013-10-31 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000082171 SCV000269109 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala45Ala 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 14.2% (625/4398) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs2287717).
PreventionGenetics,PreventionGenetics RCV000082171 SCV000314263 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576338 SCV000677298 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000578086 SCV000679828 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001521584 SCV001730949 benign Walker-Warburg congenital muscular dystrophy 2020-12-05 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527275 SCV001738233 benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2021-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001527276 SCV001738234 benign Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 2021-06-10 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000578086 SCV001738235 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082171 SCV000151159 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Natera, Inc. RCV001272534 SCV001454624 benign Dystrophin deficiency 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000082171 SCV001922118 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000082171 SCV001954792 benign not specified 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.