Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589953 | SCV000697792 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Center for Genomics, |
RCV000768171 | SCV000898581 | uncertain significance | Hyper-IgM syndrome type 3 | 2021-03-30 | criteria provided, single submitter | clinical testing | CD40 NM_001250 exon 4 p.Pro127Pro (c.381C>T): This variant has not been reported in the literature but is present in 3/18864 East Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs763263083). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Invitae | RCV002061976 | SCV002437108 | likely benign | not provided | 2023-12-13 | criteria provided, single submitter | clinical testing |