Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721397 | SCV000532529 | likely benign | not provided | 2019-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000866120 | SCV001007176 | likely benign | Birt-Hogg-Dube syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010435 | SCV001170634 | likely benign | Hereditary cancer-predisposing syndrome | 2018-06-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Center for Genomic Medicine, |
RCV002268055 | SCV002551333 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502573 | SCV002807923 | likely benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2021-11-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001721397 | SCV004218916 | benign | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing |