ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.555dup (p.Tyr186fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005048370 SCV005682227 likely pathogenic GNE myopathy; Sialuria; Thrombocytopenia 12 with or without myopathy 2024-06-02 criteria provided, single submitter clinical testing

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