ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) (rs111449472)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000246839 SCV000315085 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000315776 SCV000461249 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356611 SCV000461250 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000246839 SCV000523822 benign not specified 2016-03-21 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.
Athena Diagnostics Inc RCV000246839 SCV000615545 benign not specified 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000549044 SCV000649020 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-05-12 criteria provided, single submitter clinical testing

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