ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)

dbSNP: rs886043162
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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) RCV000377459 SCV000338761 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089124 SCV001083576 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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