ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.5965T>C (p.Ser1989Pro) (rs148704031)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177807 SCV000229741 uncertain significance not provided 2015-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719609 SCV000850478 uncertain significance History of neurodevelopmental disorder 2018-05-22 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Invitae RCV001084954 SCV001013520 benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing

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