Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001406673 | SCV001608629 | likely benign | Mucopolysaccharidosis type 1 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003930867 | SCV004741261 | likely benign | IDUA-related condition | 2019-09-18 | 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). |