ClinVar Miner

Submissions for variant NM_033071.3(SYNE1):c.2086C>A (p.Arg696=) (rs139480065)

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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 RCV000725493 SCV000337290 uncertain significance not provided 2017-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000393850 SCV000529960 likely benign not specified 2017-11-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000300704 SCV000461555 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353418 SCV000461556 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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