ClinVar Miner

Submissions for variant NM_016361.5(ACP6):c.379G>A (p.Val127Met)

gnomAD frequency: 0.00045  dbSNP: rs144959805
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000210392 SCV000258450 likely pathogenic Cerebral visual impairment and intellectual disability 2015-09-09 criteria provided, single submitter research This study shows that diverse genetic causes underlie CVI.

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.