Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000975904 | SCV001123797 | likely benign | Peutz-Jeghers syndrome | 2023-05-02 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002363488 | SCV002625869 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-04 | 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 | RCV003478597 | SCV004221280 | uncertain significance | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in individuals with STK11-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on STK11 mRNA splicing yielded inconclusive findings . Based on the available information, we are unable to determine the clinical significance of this variant. |