ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) (rs201799566)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724848 SCV000332016 uncertain significance not provided 2018-03-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298749 SCV000460911 likely benign Cerebellar ataxia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356754 SCV000460912 likely benign Emery-Dreifuss muscular dystrophy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000320790 SCV000714243 likely benign not specified 2017-04-17 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 RCV000724848 SCV000769511 likely benign not provided 2018-06-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000724848 SCV001145944 likely benign not provided 2019-07-23 criteria provided, single submitter clinical testing

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