Submissions for variant NM_000138.5(FBN1):c.5097C>T (p.Tyr1699=)

gnomAD frequency: 0.00006  dbSNP: rs368979510

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241566	SCV000302565	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000241566	SCV000512998	benign	not specified	2015-09-09	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.
Color Diagnostics, LLC DBA Color Health	RCV001188358	SCV001355406	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2019-01-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001446149	SCV001649192	likely benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-05-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001188358	SCV002645774	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2022-07-11	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.
All of Us Research Program, National Institutes of Health	RCV003998950	SCV004814677	likely benign	Marfan syndrome	2024-01-03	criteria provided, single submitter	clinical testing