Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460523 | SCV000549118 | benign | Gorlin syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733153 | SCV000861182 | uncertain significance | not provided | 2018-05-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000764852 | SCV000896008 | uncertain significance | Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001013303 | SCV001173873 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-01 | 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. |
Gene |
RCV000733153 | SCV001991043 | uncertain significance | not provided | 2019-02-28 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Sema4, |
RCV001013303 | SCV002526824 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-05-13 | criteria provided, single submitter | curation |