Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001459528 | SCV001663370 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2022-09-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001459528 | SCV002806612 | likely benign | Telangiectasia, hereditary hemorrhagic, type 5 | 2021-08-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003232164 | SCV003930142 | uncertain significance | not provided | 2022-11-30 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |