ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.582T>C (p.Leu194=)

gnomAD frequency: 0.00078  dbSNP: rs146455658
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 RCV002089848 SCV002325357 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004801141 SCV005423449 likely benign not specified 2024-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968701 SCV004780265 likely benign HPS5-related disorder 2024-01-23 no assertion criteria provided 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).

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.