ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu) (rs138004884)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713683 SCV000844310 likely benign not provided 2017-09-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178637 SCV000230755 likely benign not specified 2015-05-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402645 SCV000461431 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299095 SCV000461432 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537041 SCV000649205 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-07-28 criteria provided, single submitter clinical testing

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