ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.8229C>T (p.Ala2743=)

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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 RCV005134025 SCV005755549 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2024-06-05 criteria provided, single submitter clinical testing

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