ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3075G>A (p.Thr1025=) (rs141637316)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000718862 SCV000849726 likely benign History of neurodevelopmental disorder 2017-05-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Genetic Services Laboratory, University of Chicago RCV000194526 SCV000249404 uncertain significance not specified 2015-03-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348314 SCV000470787 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000348314 SCV000630867 likely benign Cohen syndrome 2017-11-22 criteria provided, single submitter clinical testing

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