ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.297T>G (p.Leu99=)

dbSNP: rs544304534
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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) RCV000389313 SCV000342780 uncertain significance not provided 2016-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765659 SCV004571786 likely benign GNE myopathy; Sialuria 2023-07-26 criteria provided, single submitter clinical testing

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