ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser) (rs145899734)

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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 RCV000272131 SCV000336317 likely benign not specified 2015-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000272131 SCV000718276 likely benign not specified 2017-04-19 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 RCV000873767 SCV001015825 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262522 SCV001440437 likely benign ARTHROGRYPOSIS MULTIPLEX CONGENITA 3, MYOGENIC TYPE 2019-01-01 criteria provided, single submitter clinical testing

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