ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.961C>T (p.Arg321Cys)

dbSNP: rs1554661030
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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) RCV000597115 SCV000703213 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465336 SCV004199382 likely pathogenic GNE myopathy 2023-10-16 criteria provided, single submitter clinical testing

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