Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595425 | SCV000708150 | uncertain significance | not provided | 2018-02-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084554 | SCV001117979 | benign | Hereditary fructosuria | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003962720 | SCV004776940 | likely benign | ALDOB-related condition | 2023-07-31 | 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). |
Natera, |
RCV001084554 | SCV002078719 | likely benign | Hereditary fructosuria | 2020-08-10 | no assertion criteria provided | clinical testing |