Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000323379 | SCV000377052 | uncertain significance | Myopathy, lactic acidosis, and sideroblastic anemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000941579 | SCV001087470 | benign | not provided | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000941579 | SCV001790703 | likely benign | not provided | 2020-09-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003957596 | SCV004774459 | likely benign | PUS1-related condition | 2019-07-19 | 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, |
RCV000323379 | SCV002091057 | likely benign | Myopathy, lactic acidosis, and sideroblastic anemia | 2020-05-15 | no assertion criteria provided | clinical testing |