ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) (rs143793528)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082175 SCV000114121 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000082175 SCV000151162 benign not specified 2015-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000082175 SCV000196816 benign not specified 2015-03-05 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.
Center for Genetic Medicine Research,Children's National Medical Center RCV000082175 SCV000265793 uncertain significance not specified 2015-12-01 criteria provided, single submitter research
Invitae RCV000227473 SCV000290697 benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000082175 SCV000314266 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000082175 SCV000603719 benign not specified 2018-09-25 criteria provided, single submitter clinical testing
Phosphorus, Inc. RCV000577971 SCV000679829 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2017-08-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711662 SCV000842049 benign not provided 2017-09-06 criteria provided, single submitter clinical testing

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