ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) (rs34905593)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118458 SCV000152864 likely benign not specified 2013-08-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000118458 SCV000315125 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346767 SCV000461029 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403481 SCV000461030 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000118458 SCV000520314 benign not specified 2016-03-01 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.
Invitae RCV000534122 SCV000649102 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-08-11 criteria provided, single submitter clinical testing

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