Submissions for variant NM_000138.5(FBN1):c.5065+10A>G

gnomAD frequency: 0.00048  dbSNP: rs375945405

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155704	SCV000205414	likely benign	not specified	2013-04-04	criteria provided, single submitter	clinical testing	5065+10A>G in intron 40 of FBN1: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.1% (5/4396) of African American chromosomes fr om a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS).
PreventionGenetics, part of Exact Sciences	RCV000155704	SCV000302562	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000155704	SCV000512997	benign	not specified	2016-12-06	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000474665	SCV000557068	benign	Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection	2023-12-17	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000155704	SCV001159889	benign	not specified	2018-08-31	criteria provided, single submitter	clinical testing