Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000433684 | SCV000512974 | benign | not specified | 2015-04-03 | 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. |
Genetic Services Laboratory, |
RCV000433684 | SCV000594677 | uncertain significance | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003950351 | SCV004763536 | likely benign | FANCC-related condition | 2020-03-20 | 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, |
RCV001828402 | SCV002081114 | likely benign | Fanconi anemia | 2018-11-03 | no assertion criteria provided | clinical testing |