Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514227 | SCV000610858 | likely benign | not provided | 2017-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086990 | SCV001045447 | likely benign | Glycogen storage disease IXa1 | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935356 | SCV004751900 | likely benign | PHKA2-related condition | 2020-03-14 | 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). |