ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.1302T>C (p.Tyr434=)

dbSNP: rs886044498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000399281 SCV000345176 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001436434 SCV001639276 likely benign GNE myopathy; Sialuria 2024-01-29 criteria provided, single submitter clinical testing

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