ClinVar Miner

Submissions for variant NM_005908.4(MANBA):c.1236G>A (p.Trp412Ter) (rs1553945794)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512955 SCV000609142 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center RCV001375175 SCV001571781 likely pathogenic Beta-D-mannosidosis 2021-04-12 criteria provided, single submitter clinical testing PVS1_Strong, PM2_Moderate

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.