Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653753 | SCV000775643 | likely benign | Wilms tumor 1 | 2023-12-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003314634 | SCV004014325 | uncertain significance | not provided | 2023-01-11 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |