Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000910560 | SCV001055431 | benign | not provided | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000910560 | SCV001826434 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004541941 | SCV004763878 | likely benign | PNPT1-related disorder | 2023-12-15 | 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). |