ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.4338G>C (p.Val1446=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002760663 SCV003014777 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2022-05-12 criteria provided, single submitter clinical testing

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