Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000933484 | SCV001079184 | likely benign | Hereditary fructosuria | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003895675 | SCV004714170 | likely benign | ALDOB-related condition | 2020-10-15 | 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). |