ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) (rs150912982)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616884 SCV000714666 benign not specified 2017-11-07 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.
Genetic Services Laboratory, University of Chicago RCV000118494 SCV000152900 uncertain significance not provided 2014-01-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327827 SCV000461335 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385261 SCV000461336 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647711 SCV000769509 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-26 criteria provided, single submitter clinical testing

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