ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16237-3del (rs752661566)

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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 RCV000401442 SCV000342537 uncertain significance not provided 2016-06-02 criteria provided, single submitter clinical testing
Invitae RCV000647717 SCV000769515 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-07-19 criteria provided, single submitter clinical testing

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