ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.1269A>G (p.Ile423Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003140822 SCV003818837 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-08-01 criteria provided, single submitter clinical testing

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