Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721345 | SCV000530516 | likely benign | not provided | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000876074 | SCV001018584 | benign | Argininosuccinate lyase deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902591 | SCV004719797 | likely benign | ASL-related condition | 2019-06-18 | 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). |