ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11233G>A (p.Glu3745Lys) (rs150393340)

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Total submissions: 4
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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 RCV000224241 SCV000280624 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Genetic Services Laboratory, University of Chicago RCV000503376 SCV000597901 uncertain significance not specified 2016-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719099 SCV000849963 uncertain significance History of neurodevelopmental disorder 2017-09-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000224241 SCV001098805 likely benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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