ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) (rs35811023)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079455 SCV000111334 benign not specified 2014-07-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079455 SCV000195461 likely benign not specified 2015-04-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311851 SCV000411671 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 RCV000421199 SCV000511829 likely benign not provided 2016-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000079455 SCV000515266 likely benign not specified 2018-02-05 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000421199 SCV000608892 uncertain significance not provided 2019-04-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000421199 SCV000616291 benign not provided 2018-02-22 criteria provided, single submitter clinical testing
Invitae RCV000421199 SCV001106170 benign not provided 2019-02-23 criteria provided, single submitter clinical testing

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