ClinVar Miner

Submissions for variant NM_001128227.3(GNE):c.60T>C (p.Tyr20=)

dbSNP: rs2133126743
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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 RCV001412510 SCV001614594 likely benign GNE myopathy; Sialuria 2022-09-28 criteria provided, single submitter clinical testing

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