Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003596022 | SCV000630349 | likely benign | FG syndrome | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770414 | SCV002002248 | uncertain significance | not provided | 2020-06-29 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 458816; Landrum et al., 2016) |