Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653091 | SCV000774965 | likely benign | DOCK2 deficiency | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965410 | SCV004778980 | likely benign | DOCK2-related condition | 2022-02-24 | 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). |