ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.1794A>C (p.Ser598=) (rs141424852)

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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 RCV000398276 SCV000338475 benign not specified 2016-01-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382217 SCV000461565 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294804 SCV000461566 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000398276 SCV000520145 likely benign not specified 2017-03-17 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 RCV000398276 SCV000615591 benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Invitae RCV000555484 SCV000649075 benign not provided 2019-01-21 criteria provided, single submitter clinical testing

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