ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) (rs199774691)

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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 RCV000713590 SCV000844215 uncertain significance not provided 2018-08-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000713590 SCV000702179 uncertain significance not provided 2016-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765876 SCV000897274 uncertain significance Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-10-31 criteria provided, single submitter clinical testing

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