Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000121108 | SCV000724186 | likely benign | not specified | 2018-02-13 | 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. |
Mendelics | RCV000989759 | SCV001140311 | likely benign | Birt-Hogg-Dube syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000034796 | SCV001151233 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | FLCN: BS1 |
Invitae | RCV000989759 | SCV001720538 | benign | Birt-Hogg-Dube syndrome | 2020-12-06 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000034796 | SCV002009820 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002257375 | SCV002530162 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-28 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000121108 | SCV002551345 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034796 | SCV000043266 | variant of unknown significance | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Uncertain significance. |
ITMI | RCV000121108 | SCV000085276 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |