Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000246634 | SCV000310515 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000246634 | SCV000605370 | benign | not specified | 2018-07-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001636783 | SCV001852644 | benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316412 | SCV004015610 | benign | Multiple self-healing squamous epithelioma | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000246634 | SCV004234136 | 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 20% of patients studied by a panel of primary immunodeficiencies. Number of patients: 18. Only high quality variants are reported. |