Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001726738 | SCV001961081 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | VPS13D: BP4, BS2 |
Invitae | RCV001726738 | SCV002380090 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003931294 | SCV004747292 | likely benign | VPS13D-related disorder | 2019-04-26 | 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). |