ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.235G>A (p.Val79Met) (rs104894683)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513718 SCV000610960 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000236146 SCV000230415 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
GeneDx RCV000236146 SCV000293454 likely benign not specified 2018-02-01 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 RCV000236146 SCV000594778 likely benign not specified 2015-12-31 criteria provided, single submitter clinical testing
Invitae RCV000230908 SCV000290695 benign Walker-Warburg congenital muscular dystrophy 2017-12-05 criteria provided, single submitter clinical testing
OMIM RCV000004450 SCV000024623 pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2003-12-01 no assertion criteria provided literature only

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