ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.17618C>A (p.Ala5873Glu)

dbSNP: rs563482043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001482317 SCV001686682 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-03-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001482317 SCV003820862 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-04-03 criteria provided, single submitter clinical testing

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