ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5592G>A (p.Gln1864=) (rs61742808)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192990 SCV000249411 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Invitae RCV000556512 SCV000630879 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715941 SCV000846773 benign History of neurodevelopmental disorder 2016-06-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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