ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) (rs377739292)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000545550 SCV000649040 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-10-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000592392 SCV000708316 uncertain significance not provided 2017-05-04 criteria provided, single submitter clinical testing

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