ClinVar Miner

Submissions for variant NM_183235.3(RAB27A):c.453C>T (p.Leu151=)

gnomAD frequency: 0.00003  dbSNP: rs753732362
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
Invitae RCV000981497 SCV001129470 likely benign Griscelli syndrome type 2 2023-08-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264133 SCV002542929 uncertain significance Autoinflammatory syndrome 2022-03-17 criteria provided, single submitter clinical testing

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.