Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002519582 | SCV003525525 | likely benign | not provided | 2025-01-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004020489 | SCV004923772 | likely benign | Inborn genetic diseases | 2023-10-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Genomic Medicine Center of Excellence, |
RCV004765323 | SCV005375240 | likely benign | Age related macular degeneration 13 | 2024-10-13 | criteria provided, single submitter | clinical testing | This variant (GRCh38; NM_000204.5:c.1234G>A:p.Val412Met) results in a missense mutation with the conversion of Valine (Nonpolar amino acid) to Methionine (Nonpolar amino acid) in the CFI protein. Not observed at significant frequency in large population cohorts (gnomAD). Multiple lines of computational evidence of this variant suggest no impact on gene or gene product. Reputable source recently reports variant as benign. This variant is associated with the following publications: PubMed: 25986072, 31635417 Based on conflicting evidence or insufficient data to determine whether the variant is benign or pathogenic, the clinical significance of this alteration remains unclear. In summary, this variant meets our criteria for classification as of Unknown Clinical Significance based on the evidence outlined. |
| Fulgent Genetics, |
RCV005031773 | SCV005658385 | uncertain significance | Atypical hemolytic-uremic syndrome with I factor anomaly; Age related macular degeneration 13; Factor I deficiency | 2024-02-21 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000201930 | SCV000256826 | risk factor | Macular degeneration, age-related, 13, susceptibility to | 2015-07-01 | no assertion criteria provided | literature only |