ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)

gnomAD frequency: 0.00082  dbSNP: rs138407813
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725092 SCV000333947 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000725092 SCV000621142 uncertain significance not provided 2024-08-06 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001088187 SCV000649143 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2025-01-15 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000725092 SCV001145949 likely benign not provided 2019-06-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000725092 SCV003824714 uncertain significance not provided 2019-07-11 criteria provided, single submitter clinical testing

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