ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.192T>C (p.Asp64=)

dbSNP: rs2133114091
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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 RCV002200295 SCV002354020 likely benign GNE myopathy; Sialuria 2021-05-27 criteria provided, single submitter clinical testing

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