ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) (rs146244669)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516561 SCV000615671 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726600 SCV000701739 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Invitae RCV001078470 SCV000818556 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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