Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
RCV000767911 | SCV000898558 | uncertain significance | Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency | 2021-03-30 | criteria provided, single submitter | clinical testing | C3 NM_000064.3 exon 24 c.2951-5_2951-3del: This variant is present in 0.7% (186/24898) of African alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/19-6694647-TGCA-T). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 3 nucelotides in the intronic region; splice prediction tools suggest no effect on splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Labcorp Genetics |
RCV000902612 | SCV001047042 | benign | not provided | 2023-12-25 | criteria provided, single submitter | clinical testing |