ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10920C>T (p.Ala3640=) (rs781485612)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195215 SCV000249396 likely benign not specified 2019-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718214 SCV000849076 likely benign History of neurodevelopmental disorder 2017-04-11 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)

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