Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567855 | SCV000674538 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-27 | 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. |
Invitae | RCV000697497 | SCV000826112 | likely benign | Gorlin syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764851 | SCV000896007 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002464261 | SCV002759122 | uncertain significance | not provided | 2022-06-02 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Laboratory of Molecular Epidemiology of Birth Defects, |
RCV003153746 | SCV003843564 | likely pathogenic | Ovarian cancer | 2022-01-01 | criteria provided, single submitter | clinical testing |