ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.117C>G (p.Pro39=)

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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 RCV002646346 SCV002976645 likely benign Walker-Warburg congenital muscular dystrophy 2021-12-19 criteria provided, single submitter clinical testing

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