Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001511781 | SCV001719078 | benign | Fanconi anemia | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001776239 | SCV002013483 | uncertain significance | not provided | 2019-11-25 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ce |
RCV001776239 | SCV004144932 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | SLX4: BS2 |