Total submissions: 4
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 | |
Ce |
RCV000912795 | SCV004136673 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | PUS1: BP4, BP7 |
Prevention |
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, |
RCV001274958 | SCV001459547 | likely benign | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 2020-01-03 | no assertion criteria provided | clinical testing |