ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)

gnomAD frequency: 0.00019  dbSNP: rs139079964
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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) RCV000328809 SCV000342776 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518046 SCV003195482 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-03-03 criteria provided, single submitter clinical testing

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