Submissions for variant NM_001110556.2(FLNA):c.759C>T (p.Asp253=)

gnomAD frequency: 0.00003  dbSNP: rs782701643

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002314986	SCV000848685	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-01-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000762690	SCV000893026	likely benign	not provided	2018-07-01	criteria provided, single submitter	clinical testing
Invitae	RCV001514408	SCV001722240	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000762690	SCV001814972	likely benign	not provided	2019-03-15	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000762690	SCV004564448	likely benign	not provided	2023-03-02	criteria provided, single submitter	clinical testing