ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) (rs746689638)

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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 RCV000179608 SCV000231880 uncertain significance not provided 2014-11-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765878 SCV000897278 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing

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