Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000267936 | SCV000358674 | likely benign | PGM1-congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000322974 | SCV000358675 | likely benign | Congenital disorder of glycosylation | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711888 | SCV001944223 | benign | not provided | 2018-06-14 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV003488509 | SCV004233531 | 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 38% of patients studied by a panel of primary immunodeficiencies. Number of patients: 36. Only high quality variants are reported. |