ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1030T>C (p.Leu344=)

gnomAD frequency: 0.00002  dbSNP: rs746461207
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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 RCV002133394 SCV002450668 likely benign GNE myopathy; Sialuria 2023-11-02 criteria provided, single submitter clinical testing

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