Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000966327 | SCV001113635 | likely benign | Spondyloenchondrodysplasia with immune dysregulation | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962826 | SCV004781954 | likely benign | ACP5-related condition | 2020-05-11 | 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). |