ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2643A>T (p.Lys881Asn) (rs148777544)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717328 SCV000848178 benign History of neurodevelopmental disorder 2018-02-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000276527 SCV000342231 benign not specified 2016-06-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000276527 SCV000597915 uncertain significance not specified 2016-04-25 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358657 SCV000470779 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000358657 SCV000755415 likely benign Cohen syndrome 2017-11-01 criteria provided, single submitter clinical testing

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