ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20863-3dup

dbSNP: rs755011653
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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) RCV000380705 SCV000341489 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875764 SCV001018236 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-09-08 criteria provided, single submitter clinical testing

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