ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10127A>T (p.Asn3376Ile) (rs111353525)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000719373 SCV000850239 likely benign History of neurodevelopmental disorder 2016-10-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign) ,Sub-population frequency in support of benign classification (not ava blue, manual h-w)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000154132 SCV000203796 benign not specified 2014-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000154132 SCV000597895 likely benign not specified 2016-08-08 criteria provided, single submitter clinical testing

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