Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000121107 | SCV000198122 | benign | not specified | 2013-02-21 | criteria provided, single submitter | clinical testing | Gly303Arg in exon 8A of FLCN: This variant is not expected to have clinical sign ificance because it has been identified in 13.1% (579/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs3744124). |
Invitae | RCV001514333 | SCV001722155 | benign | Birt-Hogg-Dube syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000034795 | SCV001940040 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27120335, 24728327) |
KCCC/NGS Laboratory, |
RCV001514333 | SCV004015732 | benign | Birt-Hogg-Dube syndrome | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034795 | SCV000043267 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000121107 | SCV000085275 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |