ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=)

gnomAD frequency: 0.00001  dbSNP: rs149317945
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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) RCV000591731 SCV000701833 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065141 SCV002383758 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-10-05 criteria provided, single submitter clinical testing

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