ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) (rs138039375)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248584 SCV000315117 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725762 SCV000339244 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Invitae RCV001087053 SCV001016421 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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