ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) (rs118158347)

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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 RCV000487877 SCV000228163 uncertain significance not provided 2016-05-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000194618 SCV000249407 likely benign not specified 2017-04-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487877 SCV000575567 uncertain significance not provided 2016-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717446 SCV000848297 likely benign History of neurodevelopmental disorder 2016-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000487877 SCV001018182 likely benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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