Submissions for variant NM_001458.5(FLNC):c.720T>C (p.Ile240=)

gnomAD frequency: 0.11080  dbSNP: rs2291560

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117081	SCV000151223	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117081	SCV000269127	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Ile240Ile in exon 4 of FLNC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 12.7% (553/4350) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2291560).
PreventionGenetics, part of Exact Sciences	RCV000117081	SCV000307973	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000117081	SCV000513066	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	RCV000711693	SCV000842080	benign	not provided	2017-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV001510683	SCV001717779	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	RCV002371949	SCV002673874	benign	Cardiovascular phenotype	2018-12-21	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	RCV000117081	SCV003929235	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117081	SCV001919688	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117081	SCV001955604	benign	not specified		no assertion criteria provided	clinical testing