ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.390T>G (p.Pro130=)

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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 RCV003755920 SCV004461075 likely benign Walker-Warburg congenital muscular dystrophy 2023-05-16 criteria provided, single submitter clinical testing

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