Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001521337 | SCV001730662 | benign | Glycogen storage disease IXb | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955923 | SCV004771540 | likely benign | PHKB-related condition | 2024-02-06 | 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). |