Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001510771 | SCV001717891 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001781177 | SCV002026793 | benign | Respiratory papillomatosis, juvenile recurrent, congenital | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001781176 | SCV002026794 | benign | Autoinflammation with arthritis and dyskeratosis | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001781175 | SCV002026795 | benign | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003390641 | SCV004102005 | benign | not specified | 2023-11-12 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 61% of patients studied by a panel of primary immunodeficiencies. Number of patients: 59. Only high quality variants are reported. |
OMIM | RCV000004380 | SCV000024552 | risk factor | Vitiligo-associated multiple autoimmune disease susceptibility 1 | 2007-03-22 | no assertion criteria provided | literature only |