Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554568 | SCV000656386 | likely benign | DOCK2 deficiency | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000554568 | SCV001530230 | uncertain significance | DOCK2 deficiency | 2018-03-08 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Prevention |
RCV003962609 | SCV004784573 | likely benign | DOCK2-related condition | 2020-01-10 | 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). |