Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235026 | SCV000952265 | likely benign | Ehlers-Danlos syndrome, classic type, 1 | 2023-11-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553030 | SCV001773827 | uncertain significance | not provided | 2020-10-07 | 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 does not alter protein structure/function; Reported in ClinVar as variant of uncertain significance (ClinVar Variant ID# 655722; Landrum et al., 2016) |