ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10315T>C (p.Leu3439=) (rs145279584)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724885 SCV000231390 uncertain significance not provided 2015-06-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179184 SCV000597897 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing
Invitae RCV001086099 SCV000755408 likely benign Cohen syndrome 2020-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717797 SCV000848656 likely benign History of neurodevelopmental disorder 2017-01-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Natera, Inc. RCV001086099 SCV001460999 likely benign Cohen syndrome 2020-09-16 no assertion criteria provided clinical testing

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