Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002164854 | SCV002335628 | benign | not provided | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002164854 | SCV004128505 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | VPS13D: BP4, BS2 |
Prevention |
RCV003913533 | SCV004735751 | benign | VPS13D-related disorder | 2019-05-17 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |