Submissions for variant NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=)

gnomAD frequency: 0.00002  dbSNP: rs781929535

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000195181	SCV000247400	likely benign	not specified	2016-11-28	criteria provided, single submitter	clinical testing
Invitae	RCV000956488	SCV001103252	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345693	SCV002649677	benign	Familial thoracic aortic aneurysm and aortic dissection	2020-03-24	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	RCV003436990	SCV004165091	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003907685	SCV004725125	likely benign	FLNA-related condition	2022-01-06	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).