ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) (rs12327568)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147980 SCV000195474 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294039 SCV000411625 uncertain significance Primary Microcephaly 2 With or Without Cortical Malformations 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000432829 SCV000511169 likely benign not provided 2016-07-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000147980 SCV000521955 likely benign not specified 2017-09-07 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.
Athena Diagnostics Inc RCV000432829 SCV000616292 likely benign not provided 2017-12-08 criteria provided, single submitter clinical testing

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