ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.10980T>C (p.Pro3660=) (rs61754107)

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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 RCV000718883 SCV000849747 likely benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723688 SCV000113806 uncertain significance not provided 2013-07-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193264 SCV000249397 uncertain significance not specified 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV000634124 SCV000755412 likely benign Cohen syndrome 2017-10-04 criteria provided, single submitter clinical testing

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