Submissions for variant NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)

gnomAD frequency: 0.03419  dbSNP: rs34180031

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117072	SCV000307950	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117072	SCV000522871	benign	not specified	2016-01-13	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.
Invitae	RCV000535374	SCV000651003	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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117072	SCV000711695	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.Leu1280Leu in exon 22 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 3.4% (290/8410) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs34180031).
Athena Diagnostics	RCV000711682	SCV000842069	benign	not provided	2017-11-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354297	SCV002621663	benign	Cardiovascular phenotype	2018-12-28	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	RCV000117072	SCV004029314	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117072	SCV000151214	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.
Clinical Genetics, Academic Medical Center	RCV000117072	SCV001920905	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117072	SCV001951295	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711682	SCV002037011	likely benign	not provided		no assertion criteria provided	clinical testing