ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.503T>C (p.Leu168Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989380 SCV004808175 likely pathogenic GNE myopathy 2024-03-29 criteria provided, single submitter clinical testing

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