ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)

dbSNP: rs886042121
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000298522 SCV000332013 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000550380 SCV000649186 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-07-13 criteria provided, single submitter clinical testing

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