Submissions for variant NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)

gnomAD frequency: 0.01349  dbSNP: rs74667788

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117061	SCV000151202	benign	not specified	2013-07-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000117061	SCV000250357	benign	not specified	2014-06-16	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics	RCV000253173	SCV000319378	benign	Cardiovascular phenotype	2015-02-03	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae	RCV000756176	SCV000556037	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717774	SCV000848633	benign	History of neurodevelopmental disorder	2015-02-03	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811968	SCV000883903	benign	not provided	2020-12-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117061	SCV004029216	benign	not specified	2023-07-21	criteria provided, single submitter	clinical testing