ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)

gnomAD frequency: 0.00009  dbSNP: rs199827801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608609 SCV000724199 likely benign not specified 2017-11-08 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 RCV001461273 SCV001665168 likely benign Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-12-28 criteria provided, single submitter clinical testing

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