Submissions for variant NM_001110556.2(FLNA):c.4594C>T (p.Arg1532Trp)

gnomAD frequency: 0.00003  dbSNP: rs782563345

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000640797	SCV000762396	likely benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-16	criteria provided, single submitter	clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc	RCV000659668	SCV000781511	likely benign	Connective tissue disorder	2016-11-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317719	SCV000851502	likely benign	Familial thoracic aortic aneurysm and aortic dissection	2017-06-19	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Genetic Services Laboratory, University of Chicago	RCV001818468	SCV002067204	likely benign	not specified	2018-07-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114353	SCV003800129	likely benign	not provided	2022-03-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004530156	SCV004727970	likely benign	FLNA-related disorder	2021-01-07	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).