ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.11164-4C>T (rs370961691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516264 SCV000615708 uncertain significance not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000524599 SCV000648798 likely benign Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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