ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) (rs368851580)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195038 SCV000249413 uncertain significance not specified 2014-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718317 SCV000849179 likely benign History of neurodevelopmental disorder 2017-04-08 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Fulgent Genetics,Fulgent Genetics RCV000765982 SCV000897408 uncertain significance Cohen syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000765982 SCV001098904 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing

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