ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.954C>T (p.Cys318=) (rs755968761)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178361 SCV000230427 uncertain significance not provided 2015-04-30 criteria provided, single submitter clinical testing
Invitae RCV000556333 SCV000630850 likely benign Walker-Warburg congenital muscular dystrophy 2017-07-31 criteria provided, single submitter clinical testing

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