Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000200138 | SCV000254462 | likely benign | Gorlin syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000571728 | SCV000674553 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |
St. |
RCV000200138 | SCV000891092 | uncertain significance | Gorlin syndrome | 2021-02-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764844 | SCV000896000 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000571728 | SCV002526861 | likely benign | Hereditary cancer-predisposing syndrome | 2021-09-01 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477667 | SCV004219188 | uncertain significance | not provided | 2022-12-15 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. The frequency of this variant in the general population, 0.0001 (13/129200 chromosomes in European (Non-Finnish) subpopulation, 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. |