ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24861C>T (p.His8287=)

gnomAD frequency: 0.00016  dbSNP: rs202207154
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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) RCV000320016 SCV000336324 uncertain significance not provided 2016-10-05 criteria provided, single submitter clinical testing
Invitae RCV001481365 SCV001685708 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-02-29 criteria provided, single submitter clinical testing

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