ClinVar Miner

Submissions for variant NM_017890.4(VPS13B):c.2911C>T (p.Arg971Ter) (rs120074152)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624804 SCV000742912 pathogenic Inborn genetic diseases 2017-10-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000002957 SCV000700150 pathogenic Cohen syndrome 2017-01-17 criteria provided, single submitter clinical testing
OMIM RCV000002957 SCV000023115 pathogenic Cohen syndrome 2004-07-01 no assertion criteria provided literature only

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