Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703561 | SCV000516759 | likely benign | not provided | 2021-01-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464891 | SCV000557067 | likely benign | Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000430847 | SCV000710905 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Leu729Leu in Exon 18 of FBN1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.1% (10/10384) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs61730055). |
Ambry Genetics | RCV001180310 | SCV000738828 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2017-05-30 | 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. |
Color Diagnostics, |
RCV001180310 | SCV001345209 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2018-11-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996028 | SCV004814912 | likely benign | Marfan syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004530561 | SCV004727679 | likely benign | FBN1-related disorder | 2023-01-18 | no assertion criteria provided | 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). |