Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518974 | SCV001727765 | benign | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | 2024-01-17 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003931114 | SCV004742807 | likely benign | MOCS1-related disorder | 2019-05-27 | 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). |