Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768260 | SCV000898811 | uncertain significance | Nephrotic syndrome 15 | 2021-03-30 | criteria provided, single submitter | clinical testing | MAGI2 NM_012301.3 exon 10 p.Met593Val (c.1777A>G): This variant has not been reported in the literature but is present in 9/126082 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs745364999). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Fulgent Genetics, |
RCV000768260 | SCV002781881 | uncertain significance | Nephrotic syndrome 15 | 2022-03-21 | criteria provided, single submitter | clinical testing |