Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000768281 | SCV000898872 | uncertain significance | Immunodeficiency 23 | 2021-03-30 | criteria provided, single submitter | clinical testing | PGM3 NM_001199917.1 exon 4 p.Val101= (c.303A>G): This variant has not been reported in the literature and is present in 0.03% (13/33576) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/6-83898503-T-C). 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 | RCV000768281 | SCV002255393 | likely benign | Immunodeficiency 23 | 2023-12-25 | criteria provided, single submitter | clinical testing |