Submissions for variant NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)

gnomAD frequency: 0.00295  dbSNP: rs34439033

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117056	SCV000228215	benign	not specified	2015-03-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000117056	SCV000250340	benign	not specified	2014-10-30	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	RCV000249405	SCV000320539	benign	Cardiovascular phenotype	2015-12-02	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae	RCV000473871	SCV000556052	benign	Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000715662	SCV000846492	benign	History of neurodevelopmental disorder	2015-12-02	criteria provided, single submitter	clinical testing	Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811965	SCV001158891	benign	not provided	2020-05-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117056	SCV004038917	benign	not specified	2023-08-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925137	SCV004739899	benign	FLNA-related condition	2019-05-20	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).
Genetic Services Laboratory, University of Chicago	RCV000117056	SCV000151191	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117056	SCV001926419	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117056	SCV001973242	benign	not specified		no assertion criteria provided	clinical testing