ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) (rs75817012)

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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 RCV000713656 SCV000844283 benign not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000325760 SCV000336991 benign not specified 2015-10-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273392 SCV000461537 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312146 SCV000461538 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560565 SCV000649161 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-27 criteria provided, single submitter clinical testing

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