ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) (rs35987150)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000441443 SCV000615576 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000441443 SCV000525213 benign not specified 2016-12-22 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 RCV000262344 SCV000461125 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317570 SCV000461126 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647685 SCV000769483 benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2017-12-04 criteria provided, single submitter clinical testing

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