ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.384C>T (p.Thr128=)

dbSNP: rs773315965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001448668 SCV001651764 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV004779119 SCV005390458 uncertain significance not provided 2024-03-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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