ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18875A>G (p.Glu6292Gly)

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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 RCV003991376 SCV004808705 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-12-14 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, BP4 (ACMG Version 4)

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