Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467172 | SCV000560342 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568426 | SCV000673428 | likely benign | Hereditary cancer-predisposing syndrome | 2015-12-16 | 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 |
RCV001538848 | SCV001756555 | likely benign | not provided | 2021-04-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496831 | SCV002807191 | likely benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2021-08-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001538848 | SCV004218926 | benign | not provided | 2023-08-14 | criteria provided, single submitter | clinical testing |