Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000528614 | SCV000632820 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000615060 | SCV000721581 | likely benign | not specified | 2017-08-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000615060 | SCV002774779 | benign | not specified | 2021-07-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490993 | SCV002799253 | likely benign | Birt-Hogg-Dube syndrome; Familial spontaneous pneumothorax; Potocki-Lupski syndrome; Nonpapillary renal cell carcinoma; Colorectal cancer | 2021-11-30 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000528614 | SCV004015734 | likely benign | Birt-Hogg-Dube syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing |