ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5980A>G (p.Ile1994Val)

dbSNP: rs2098156852
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331547 SCV001523608 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-10-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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