ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)

gnomAD frequency: 0.00006  dbSNP: rs375649094
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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) RCV000390186 SCV000339517 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855168 SCV002153190 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-11-11 criteria provided, single submitter clinical testing

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