Submissions for variant NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=)

gnomAD frequency: 0.00001  dbSNP: rs1027131950

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001698095	SCV000726524	likely benign	not provided	2019-06-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621088	SCV000739106	likely benign	Cardiovascular phenotype	2017-04-03	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Ambry Genetics	RCV000718600	SCV000849464	likely benign	History of neurodevelopmental disorder	2017-04-03	criteria provided, single submitter	clinical testing	Synonymous alterations with insufficient evidence to classify as benign
Invitae	RCV000864793	SCV001005651	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2023-10-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945526	SCV004764962	likely benign	FLNA-related condition	2022-02-23	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).