ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.1922G>A (p.Arg641His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252566 SCV001428324 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV001264746 SCV001442980 likely pathogenic Beta-D-mannosidosis 2020-04-22 no assertion criteria provided clinical testing

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