Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000195497 | SCV000251401 | likely benign | not specified | 2015-08-26 | 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. |
Center for Pediatric Genomic Medicine, |
RCV000513932 | SCV000610760 | likely benign | not provided | 2017-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087746 | SCV001121695 | benign | Fructose-biphosphatase deficiency | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003947632 | SCV004764810 | likely benign | FBP1-related condition | 2019-12-27 | 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). |