ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.4150-5dup

dbSNP: rs776033844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000288506 SCV000339263 uncertain significance not provided 2016-02-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519205 SCV003230727 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-15 criteria provided, single submitter clinical testing

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