ClinVar Miner

Submissions for variant NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) (rs74012142)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434854 SCV000511275 likely benign not provided 2016-09-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000145624 SCV000714541 benign not specified 2017-02-20 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.
Genetic Services Laboratory, University of Chicago RCV000145624 SCV000192721 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333772 SCV000392868 uncertain significance Primary Microcephaly, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372123 SCV000392869 uncertain significance Seckel syndrome 2016-06-14 criteria provided, single submitter clinical testing

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