ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) (rs145890213)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718284 SCV000849146 uncertain significance History of neurodevelopmental disorder 2017-03-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000259055 SCV000113854 likely benign not specified 2016-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000293375 SCV000611533 uncertain significance Cohen syndrome 2017-05-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081919 SCV000153496 uncertain significance not provided 2014-02-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293375 SCV000470832 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000293375 SCV000755402 benign Cohen syndrome 2017-11-18 criteria provided, single submitter clinical testing

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