Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245445 | SCV000314021 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001521987 | SCV001731434 | benign | Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001618467 | SCV001845508 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 31866997, 22561518, 28553952, 28973304, 23441136, 27720759, 28000722, 23734776, 16699517, 24386202, 20644636, 20694011, 20467774, 17535987, 19324880, 21705624, 19539001, 18927125, 19841890, 24117221, 24995871) |
Genome- |
RCV001701912 | SCV001933265 | benign | Aicardi-Goutieres syndrome 7 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001701913 | SCV001933266 | benign | Singleton-Merten syndrome 1 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000245445 | SCV004102027 | 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 59% of patients studied by a panel of primary immunodeficiencies. Number of patients: 57. Only high quality variants are reported. |