ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=) (rs138628147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000329344 SCV000338033 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Invitae RCV000549032 SCV000649103 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000329344 SCV000714946 likely benign not specified 2017-08-25 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.

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