ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) (rs119103247)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000002423 SCV000022581 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2007-12-01 no assertion criteria provided literature only

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