ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)

gnomAD frequency: 0.00009  dbSNP: rs148606479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727219 SCV000706719 uncertain significance not provided 2017-02-28 criteria provided, single submitter clinical testing
GeneDx RCV000596574 SCV000732383 likely benign not specified 2017-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002062072 SCV002379979 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-01-05 criteria provided, single submitter clinical testing

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