Submissions for variant NM_001458.5(FLNC):c.147C>T (p.His49=)

gnomAD frequency: 0.09267  dbSNP: rs3734972

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117066	SCV000151208	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117066	SCV000269118	benign	not specified	2015-01-13	criteria provided, single submitter	clinical testing	p.His49His in exon 1 of FLNC: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 11.1% (487/4404) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs3734972).
PreventionGenetics, part of Exact Sciences	RCV000117066	SCV000307927	benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000117066	SCV000519345	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	RCV000711677	SCV000842064	benign	not provided	2017-09-12	criteria provided, single submitter	clinical testing
Invitae	RCV001520067	SCV001729078	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	RCV002390262	SCV002699569	benign	Cardiovascular phenotype	2018-12-27	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	RCV000117066	SCV003929248	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117066	SCV001925482	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117066	SCV001951841	benign	not specified		no assertion criteria provided	clinical testing