Submissions for variant NM_001110556.2(FLNA):c.1239G>A (p.Thr413=)

gnomAD frequency: 0.00098  dbSNP: rs200278701

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117041	SCV000151173	uncertain significance	not provided	2013-06-04	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000259152	SCV000233040	likely benign	not specified	2015-06-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000117041	SCV000513050	likely benign	not provided	2020-05-26	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000259152	SCV000613322	benign	not specified	2016-11-21	criteria provided, single submitter	clinical testing
Invitae	RCV001088786	SCV000639756	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313880	SCV000739067	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-01-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000117041	SCV003799689	benign	not provided	2022-03-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000259152	SCV004039292	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing