ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln)

dbSNP: rs587780334
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117036 SCV000151158 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520188 SCV001729245 benign Walker-Warburg congenital muscular dystrophy 2023-08-24 criteria provided, single submitter clinical testing

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