ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) (rs755709525)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533514 SCV000649033 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-07-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596607 SCV000705305 uncertain significance not provided 2017-01-05 criteria provided, single submitter clinical testing
GeneDx RCV000596607 SCV000969749 likely benign not provided 2018-05-31 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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