ClinVar Miner

Submissions for variant NM_001693.4(ATP6V1B2):c.1454G>C (p.Arg485Pro) (rs730882177)

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
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000190318 SCV000212224 pathogenic Zimmermann-Laband syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000185603 SCV000238512 pathogenic Zimmermann-Laband syndrome 2 2015-06-01 no assertion criteria provided literature only

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.