ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.11013C>T (p.Val3671=) (rs758028194)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084115 SCV000755416 likely benign Cohen syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719627 SCV000850497 likely benign History of neurodevelopmental disorder 2017-02-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000734142 SCV000862260 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing

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