ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.567C>T (p.Pro189=) (rs201454433)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254084 SCV000314269 benign not specified 2016-03-25 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725158 SCV000334550 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000254084 SCV000535732 likely benign not specified 2018-02-22 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 RCV000472615 SCV000559444 benign Walker-Warburg congenital muscular dystrophy 2018-01-03 criteria provided, single submitter clinical testing

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