Submissions for variant NM_001110556.2(FLNA):c.753C>T (p.Asn251=)

gnomAD frequency: 0.00069  dbSNP: rs377507152

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001720100	SCV000520536	likely benign	not provided	2018-08-15	criteria provided, single submitter	clinical testing
Invitae	RCV000640783	SCV000762382	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002392976	SCV002674022	benign	Familial thoracic aortic aneurysm and aortic dissection	2021-04-20	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	RCV001720100	SCV004165130	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	FLNA: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003912665	SCV004731716	likely benign	FLNA-related condition	2019-04-02	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).