ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1887A>G (p.Leu629=)

gnomAD frequency: 0.00001  dbSNP: rs972467458
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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) RCV000732975 SCV000860977 uncertain significance not provided 2018-05-02 criteria provided, single submitter clinical testing
Invitae RCV001506623 SCV001711550 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-10-13 criteria provided, single submitter clinical testing

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