ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.477G>A (p.Pro159=)

dbSNP: rs1599935385
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000793590 SCV000932951 likely benign Walker-Warburg congenital muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing

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