ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.192C>T (p.Pro64=) (rs111754012)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117037 SCV000151160 benign not specified 2013-04-16 criteria provided, single submitter clinical testing
GeneDx RCV000117037 SCV000168554 benign not specified 2014-04-01 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.
Invitae RCV000227021 SCV000290694 benign Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117037 SCV000314264 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000576519 SCV000677299 benign Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 2017-05-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001284752 SCV001470734 benign none provided 2019-11-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272536 SCV001454626 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 2020-09-16 no assertion criteria provided clinical testing

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