Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001502304 | SCV001707133 | likely benign | Alpha-N-acetylgalactosaminidase deficiency type 1 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930781 | SCV004746882 | likely benign | NAGA-related condition | 2019-09-26 | 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). |