ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.910G>A (p.Gly304Arg)

dbSNP: rs755743750
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670521 SCV000795381 uncertain significance GNE myopathy 2017-11-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000670521 SCV004191668 likely pathogenic GNE myopathy 2024-03-08 criteria provided, single submitter clinical testing

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