ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1440C>T (p.Asn480=) (rs115365212)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000082173 SCV000114119 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV001704005 SCV000525535 likely benign not provided 2020-09-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27439679)
Invitae RCV000465660 SCV000559440 benign Walker-Warburg congenital muscular dystrophy 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082173 SCV000594782 likely benign not specified 2016-10-10 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV000082173 SCV001917302 benign not specified no assertion criteria provided clinical testing

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