Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000247807 | SCV000309453 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000247807 | SCV000516303 | benign | not specified | 2015-10-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001511968 | SCV001719294 | benign | Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808691 | SCV002057220 | benign | Combined immunodeficiency due to STIM1 deficiency | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808692 | SCV002057221 | benign | Myopathy, tubular aggregate, 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808693 | SCV002057222 | benign | Stormorken syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000247807 | SCV004233599 | 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 98% of patients studied by a panel of primary immunodeficiencies. Number of patients: 93. Only high quality variants are reported. |
Breakthrough Genomics, |
RCV004718134 | SCV005321448 | benign | not provided | criteria provided, single submitter | not provided |