ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) (rs886042121)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000298522 SCV000332013 uncertain significance not provided 2015-07-02 criteria provided, single submitter clinical testing
Invitae RCV000550380 SCV000649186 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-07-13 criteria provided, single submitter clinical testing

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