ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) (rs151081036)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725314 SCV000335966 uncertain significance not provided 2018-06-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384304 SCV000461273 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290015 SCV000461274 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000725314 SCV000649011 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
GeneDx RCV000321250 SCV000721571 likely benign not specified 2017-07-31 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.
Athena Diagnostics Inc RCV000725314 SCV001145853 benign not provided 2019-03-22 criteria provided, single submitter clinical testing

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