ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1350G>A (p.Ala450=)

gnomAD frequency: 0.00195  dbSNP: rs142127415
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000641274 SCV000762913 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2023-12-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965359 SCV004783148 likely benign CCT5-related disorder 2019-03-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004717697 SCV005298678 benign not provided criteria provided, single submitter not provided

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.