ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17203-7_17203-6del (rs55633181)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180729 SCV000233211 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394274 SCV000461099 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311694 SCV000461100 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000870518 SCV001012021 benign not provided 2017-06-14 criteria provided, single submitter clinical testing

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