ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.14530G>T (p.Asp4844Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Bochum, Ruhr University Bochum RCV003886320 SCV004704553 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2023-04-11 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant: PM2_SUP, PP3

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