Submissions for variant NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)

gnomAD frequency: 0.28610  dbSNP: rs34373805

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117073	SCV000151215	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000117073	SCV000228032	benign	not specified	2015-06-04	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117073	SCV000269121	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Leu1325Leu in exon 23 of FLNC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 47.5% (2011/4238) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34373805).
PreventionGenetics, part of Exact Sciences	RCV000117073	SCV000307952	benign	not specified	2015-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000117073	SCV000519350	benign	not specified	2016-02-08	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.
Athena Diagnostics	RCV000711683	SCV000842070	benign	not provided	2017-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV001510685	SCV001717781	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-02-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117073	SCV001774555	benign	not specified	2021-07-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354298	SCV002623087	benign	Cardiovascular phenotype	2018-12-24	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Clinical Genetics, Academic Medical Center	RCV000117073	SCV001923795	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117073	SCV001958938	benign	not specified		no assertion criteria provided	clinical testing