ClinVar Miner

Submissions for variant NM_025215.6(PUS1):c.564C>T (p.Gly188=)

gnomAD frequency: 0.00005  dbSNP: rs369250859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000912795 SCV001057914 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000912795 SCV004136673 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PUS1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003970379 SCV004781305 likely benign PUS1-related disorder 2023-11-16 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).
Natera, Inc. RCV001274958 SCV001459547 likely benign Myopathy, lactic acidosis, and sideroblastic anemia 1 2020-01-03 no assertion criteria provided 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.