ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)

gnomAD frequency: 0.00030  dbSNP: rs150121030
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727453 SCV000620005 uncertain significance not provided 2025-03-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Eurofins Ntd Llc (ga) RCV000727453 SCV000708681 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000727453 SCV001475593 likely benign not provided 2019-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060277 SCV002419362 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-12-03 criteria provided, single submitter clinical testing

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