Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628378 | SCV000749275 | likely benign | Gorlin syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764850 | SCV000896006 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001018662 | SCV001179926 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-05 | 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. |
Sema4, |
RCV001018662 | SCV002527364 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-12 | criteria provided, single submitter | curation | |
Gene |
RCV003441975 | SCV004167815 | uncertain significance | not provided | 2023-04-28 | criteria provided, single submitter | clinical testing | 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; This variant is associated with the following publications: (PMID: 8906794, 34638259) |