ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) (rs150179494)

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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 RCV000382371 SCV000338847 benign not specified 2016-05-24 criteria provided, single submitter clinical testing
GeneDx RCV000382371 SCV000514838 likely benign not specified 2016-07-06 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.
Athena Diagnostics Inc RCV000710237 SCV000615547 likely benign not provided 2017-10-26 criteria provided, single submitter clinical testing
Invitae RCV001086820 SCV000649022 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-12-31 criteria provided, single submitter clinical testing

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