Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000206274 | SCV000260931 | likely benign | Gorlin syndrome | 2025-01-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000569099 | SCV000674544 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-23 | 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. |
| Gene |
RCV001762440 | SCV001989270 | uncertain significance | not provided | 2023-05-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Observed in individual(s) with breast cancer (Chen et al., 2020); This variant is associated with the following publications: (PMID: 32091409) |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001762440 | SCV005623708 | uncertain significance | not provided | 2024-11-18 | criteria provided, single submitter | clinical testing | The PTCH1 c.113G>C (p.Gly38Ala) variant has not been reported in individuals with PTCH1-related conditions in the published literature. The frequency of this variant in the general population, 0.00013 (15/117370 chromosomes in European (Non-Finnish) subpopulation (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is higher than would generally be expected for pathogenic variants in this gene. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
| Fulgent Genetics, |
RCV005042445 | SCV005679710 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Holoprosencephaly 7; Basal cell nevus syndrome 1 | 2024-02-03 | criteria provided, single submitter | clinical testing |