ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=) (rs73619386)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000300402 SCV000335986 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000300402 SCV000527294 likely benign not specified 2018-03-01 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 RCV001078502 SCV000649100 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713624 SCV000844250 benign not provided 2017-09-18 criteria provided, single submitter clinical testing

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