Submissions for variant NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=)

gnomAD frequency: 0.00005  dbSNP: rs370476531

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000302505	SCV000343995	likely benign	not specified	2016-07-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001718589	SCV000527307	likely benign	not provided	2020-09-16	criteria provided, single submitter	clinical testing
Invitae	RCV000469573	SCV000556046	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002328790	SCV002634218	benign	Familial thoracic aortic aneurysm and aortic dissection	2019-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV001718589	SCV004165101	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7