ClinVar Miner

Submissions for variant NM_003680.3(YARS1):c.510+10G>C (rs201272488)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725523 SCV000337504 uncertain significance not provided 2015-11-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377682 SCV000357245 likely benign Charcot-Marie-Tooth, Intermediate 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000361009 SCV000527252 likely benign not specified 2017-09-22 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.
Invitae RCV001080452 SCV000639558 likely benign Charcot-Marie-Tooth disease, dominant intermediate C 2019-12-31 criteria provided, single submitter clinical testing

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