Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000966457 | SCV001113781 | benign | DOCK2 deficiency | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960778 | SCV004777609 | likely benign | DOCK2-related condition | 2019-12-20 | 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). |
Genome Diagnostics Laboratory, |
RCV001729763 | SCV001978125 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001729762 | SCV001980658 | likely benign | not provided | no assertion criteria provided | clinical testing |