ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.8246A>G (p.Tyr2749Cys) (rs138453594)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178583 SCV000230694 benign not specified 2015-04-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280373 SCV000470829 uncertain significance Cohen syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000178583 SCV000597890 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Invitae RCV000859919 SCV000630891 benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715831 SCV000846662 likely benign History of neurodevelopmental disorder 2016-05-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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