ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)

gnomAD frequency: 0.00010  dbSNP: rs143416387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000875130 SCV001017413 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-05-23 criteria provided, single submitter clinical testing
GeneDx RCV001766784 SCV001990470 uncertain significance not provided 2019-07-25 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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