ClinVar Miner

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

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000576338 SCV000677298 benign not provided 2017-04-28 criteria provided, single submitter clinical testing
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.
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.
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).
Phosphorus, Inc. RCV000578086 SCV000679828 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-08-01 criteria provided, single submitter clinical testing
PreventionGenetics RCV000082171 SCV000314263 benign not specified criteria provided, single submitter clinical testing

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