Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Preventiongenetics, |
RCV000252000 | SCV000310510 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV001651185 | SCV001158631 | benign | not provided | 2020-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001514616 | SCV001722504 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001651185 | SCV001863144 | benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 15382067, 22905183, 20354825, 16428477) |
Genome- |
RCV001838577 | SCV002098912 | benign | Loeys-Dietz syndrome 1 | 2021-09-10 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316411 | SCV004015609 | benign | Multiple self-healing squamous epithelioma | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000252000 | SCV004233959 | benign | not specified | 2024-01-24 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 39% of patients studied by a panel of primary immunodeficiencies. Number of patients: 34. Only high quality variants are reported. |
Genome Diagnostics Laboratory, |
RCV000252000 | SCV001807789 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000252000 | SCV001974344 | benign | not specified | no assertion criteria provided | clinical testing |