ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly)

gnomAD frequency: 0.00098  dbSNP: rs187910661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613600 SCV000716434 likely benign not specified 2017-02-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513778 SCV001721459 benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-17 criteria provided, single submitter clinical testing

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