ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.9169G>T (p.Asp3057Tyr) (rs140095832)

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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 RCV000719116 SCV000849980 uncertain significance History of neurodevelopmental disorder 2016-05-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723588 SCV000113856 uncertain significance not provided 2013-03-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000193739 SCV000249426 uncertain significance not specified 2014-05-23 criteria provided, single submitter clinical testing
Invitae RCV000634140 SCV000755436 benign Cohen syndrome 2017-12-07 criteria provided, single submitter clinical testing

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