Submissions for variant NM_001458.5(FLNC):c.7221C>T (p.Asp2407=)

gnomAD frequency: 0.15729  dbSNP: rs3816885

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117082	SCV000151224	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117082	SCV000269128	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Asp2407Asp in exon 43 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 35.8% (1551/4334) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3816885).
PreventionGenetics, part of Exact Sciences	RCV000117082	SCV000307974	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117082	SCV000519426	benign	not specified	2016-02-12	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	RCV000711694	SCV000842081	benign	not provided	2017-12-13	criteria provided, single submitter	clinical testing
Invitae	RCV001517752	SCV001726318	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
Ambry Genetics	RCV002371950	SCV002670093	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117082	SCV003929224	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117082	SCV001925407	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117082	SCV001951123	benign	not specified		no assertion criteria provided	clinical testing