Submissions for variant NM_001110556.2(FLNA):c.732C>T (p.Pro244=)

gnomAD frequency: 0.00020  dbSNP: rs371092631

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178846	SCV000231011	benign	not specified	2015-05-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001721124	SCV000513047	likely benign	not provided	2020-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV000546823	SCV000639830	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314650	SCV000739069	benign	Familial thoracic aortic aneurysm and aortic dissection	2016-08-25	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	RCV001721124	SCV004165131	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178846	SCV004803373	benign	not specified	2024-01-15	criteria provided, single submitter	clinical testing