ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000203031 SCV000258271 benign not specified 2015-02-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000203031 SCV000862971 benign not specified 2018-08-14 criteria provided, single submitter clinical testing
Invitae RCV000870485 SCV001011983 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-10-30 criteria provided, single submitter clinical testing

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