Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001470989 | SCV001675090 | likely benign | Mucopolysaccharidosis type 7 | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938840 | SCV004753112 | likely benign | GUSB-related condition | 2022-12-09 | 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). |