Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001687718 | SCV001909309 | benign | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001687718 | SCV002397438 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001687718 | SCV002821001 | benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | VPS13D: BP4, BP7, BS1, BS2 |
Prevention |
RCV003975974 | SCV004795779 | likely benign | VPS13D-related disorder | 2019-03-18 | 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). |