ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1434A>G (p.Val478=)

gnomAD frequency: 0.00003  dbSNP: rs1473072355
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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 RCV001497239 SCV001701964 likely benign GNE myopathy; Sialuria 2023-12-25 criteria provided, single submitter clinical testing

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