ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)

gnomAD frequency: 0.00001  dbSNP: rs759403120
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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) RCV000381782 SCV000344775 uncertain significance not provided 2016-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765679 SCV004568654 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-11-19 criteria provided, single submitter clinical testing

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