ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile) (rs74463786)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000311276 SCV000343082 benign not specified 2016-07-08 criteria provided, single submitter clinical testing
GeneDx RCV000311276 SCV000532144 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000311276 SCV000615540 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Invitae RCV000557316 SCV000649015 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-07-27 criteria provided, single submitter clinical testing

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