ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=) (rs148486281)

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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 RCV000597769 SCV000701741 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV001087435 SCV001023439 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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