ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.240T>C (p.Asp80=)

gnomAD frequency: 0.00001  dbSNP: rs780405231
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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 RCV001461513 SCV001665414 likely benign GNE myopathy; Sialuria 2024-01-26 criteria provided, single submitter clinical testing

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