Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CSER _CC_NCGL, |
RCV000148504 | SCV000190215 | uncertain significance | Birt-Hogg-Dube syndrome | 2015-12-01 | criteria provided, single submitter | research | |
Ambry Genetics | RCV000163388 | SCV000213928 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-03 | 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. |
Invitae | RCV000148504 | SCV000291452 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genomic Diagnostic Laboratory, |
RCV000148504 | SCV000298054 | uncertain significance | Birt-Hogg-Dube syndrome | 2016-07-18 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000148504 | SCV000401012 | likely benign | Birt-Hogg-Dube syndrome | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Gene |
RCV000656850 | SCV000616724 | likely benign | not provided | 2021-05-13 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with FLCN-related tumors and other cancers (Woodward 2008, Whitworth 2016, Melloni 2017); Also known as c.1213C>T; This variant is associated with the following publications: (PMID: 23784378, 26608100, 25637381, 28873162, 20981092, 21538689, 24055113, 19802896, 19562744, 23155228, 26334087, 23217326, 23820649, 26659639, 23414156, 24728327, 28569218, 18794106, 28785590, 29357828, 28970150, 33137092, 33858678) |
Mendelics | RCV000148504 | SCV001140313 | benign | Birt-Hogg-Dube syndrome | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000656850 | SCV002009831 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163388 | SCV002530153 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-13 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000121104 | SCV002551355 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000656850 | SCV002774598 | uncertain significance | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000656850 | SCV004142321 | uncertain significance | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | FLCN: PP3 |
Prevention |
RCV003945073 | SCV004758640 | likely benign | FLCN-related condition | 2024-01-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
ITMI | RCV000121104 | SCV000085272 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |