ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24977-1774A>G (rs2747662)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118469 SCV000152875 benign not specified 2013-08-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118469 SCV000315147 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277927 SCV000460893 benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333086 SCV000460894 benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118469 SCV000519643 benign not specified 2016-01-25 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.
Athena Diagnostics Inc RCV000993168 SCV001145946 benign not provided 2018-11-02 criteria provided, single submitter clinical testing

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