ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) (rs144435836)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000312982 SCV000338874 uncertain significance not provided 2018-07-03 criteria provided, single submitter clinical testing
Invitae RCV001081234 SCV001092287 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000312982 SCV001145986 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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