ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) (rs148008634)

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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 RCV000725395 SCV000336627 uncertain significance not provided 2017-03-21 criteria provided, single submitter clinical testing
GeneDx RCV000302713 SCV000730132 likely benign not specified 2017-11-27 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 RCV000319118 SCV000460897 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000373820 SCV000460898 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing

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