ClinVar Miner

Submissions for variant NM_015243.2(VPS13B):c.1463C>T (p.Thr488Met) (rs150783688)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488217 SCV000575565 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000488217 SCV000113814 uncertain significance not provided 2013-06-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081879 SCV000597875 uncertain significance not specified 2016-02-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335692 SCV000470767 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000335692 SCV000755439 likely benign Cohen syndrome 2017-12-22 criteria provided, single submitter clinical testing

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