Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727347 | SCV000707765 | uncertain significance | not provided | 2017-10-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591166 | SCV000716424 | likely benign | not specified | 2017-03-02 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV001088507 | SCV001058091 | likely benign | Hereditary fructosuria | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000727347 | SCV004184811 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | ALDOB: BP4, BP7 |
Prevention |
RCV003962717 | SCV004780939 | likely benign | ALDOB-related condition | 2021-07-30 | 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, |
RCV001088507 | SCV001461174 | likely benign | Hereditary fructosuria | 2020-04-14 | no assertion criteria provided | clinical testing |