Submissions for variant NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)

gnomAD frequency: 0.00141  dbSNP: rs200195310

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178571	SCV000230680	benign	not specified	2015-06-05	criteria provided, single submitter	clinical testing
GeneDx	RCV001704852	SCV000522967	likely benign	not provided	2021-01-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617434	SCV000738441	likely benign	Cardiovascular phenotype	2016-01-28	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.
Invitae	RCV000640806	SCV000762405	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000718944	SCV000849808	likely benign	History of neurodevelopmental disorder	2016-01-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704852	SCV001473640	benign	not provided	2019-11-04	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178571	SCV004039279	benign	not specified	2023-08-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907620	SCV004723295	benign	FLNA-related condition	2019-06-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).