ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) (rs142422990)

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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 RCV000312820 SCV000615562 uncertain significance not specified 2016-07-20 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000312820 SCV000342375 likely benign not specified 2016-09-08 criteria provided, single submitter clinical testing
GeneDx RCV000312820 SCV000532337 likely benign not specified 2016-10-21 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.
Illumina Clinical Services Laboratory,Illumina RCV000360305 SCV000461167 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264553 SCV000461168 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing

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