Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247141 | SCV001420548 | likely benign | Cohen syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001751502 | SCV001996759 | uncertain significance | not provided | 2022-12-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function |
Fulgent Genetics, |
RCV001247141 | SCV002816339 | uncertain significance | Cohen syndrome | 2021-10-07 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938578 | SCV004749114 | likely benign | VPS13B-related disorder | 2023-02-22 | 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, |
RCV001247141 | SCV002079452 | uncertain significance | Cohen syndrome | 2020-01-24 | no assertion criteria provided | clinical testing |