ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.2127T>C (p.Ala709=)

dbSNP: rs1282905700
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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 RCV001436458 SCV001639300 likely benign GNE myopathy; Sialuria 2024-01-25 criteria provided, single submitter clinical testing

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