ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.557A>G (p.Tyr186Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145889 SCV003830011 likely pathogenic not provided 2022-06-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047436 SCV005682226 likely pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2023-12-28 criteria provided, single submitter clinical testing

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