ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24150C>T (p.His8050=) (rs140259310)

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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 RCV000401314 SCV000337542 uncertain significance not provided 2015-11-21 criteria provided, single submitter clinical testing
Invitae RCV001088905 SCV001019460 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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