ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.19056+3A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV003991362 SCV004808691 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2021-12-27 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PP3 (ACMG Version 3)

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