ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala) (rs115786671)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000710236 SCV000615537 likely benign not provided 2018-08-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000297170 SCV000334818 likely benign not specified 2015-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000297170 SCV000714264 likely benign not specified 2017-05-19 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 RCV000368381 SCV000461267 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273710 SCV000461268 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000647715 SCV000769513 likely benign Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2018-01-03 criteria provided, single submitter clinical testing

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