Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002525648 | SCV000556444 | likely benign | not provided | 2025-01-21 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004948349 | SCV005585564 | likely benign | Hereditary cancer-predisposing syndrome | 2024-09-22 | 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002525648 | SCV005625613 | uncertain significance | not provided | 2024-08-22 | criteria provided, single submitter | clinical testing | The FH c.1237-7_1237-4dup variant has not been reported in individuals with FH-related conditions in the published literature. The frequency of this variant in the general population, 0.000017 (4/233054 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on FH mRNA splicing yielded inconclusive findings. Based on the available information, we are unable to determine the clinical significance of this variant. |