Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000460100 | SCV000560338 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001026964 | SCV001189447 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-17 | 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, |
RCV001026964 | SCV002530157 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-17 | criteria provided, single submitter | curation | |
Fulgent Genetics, |
RCV002489124 | SCV002795322 | likely benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003478032 | SCV004219732 | benign | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing |