Submissions for variant NM_001458.5(FLNC):c.1902G>A (p.Glu634=)

gnomAD frequency: 0.00414  dbSNP: rs12536635

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174300	SCV000225579	benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000174300	SCV000307932	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000174300	SCV000521449	benign	not specified	2016-03-11	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	RCV001080126	SCV000650923	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-31	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000541893	SCV001143942	benign	not provided	2018-12-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000541893	SCV002497555	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS2
Ambry Genetics	RCV002408757	SCV002723700	likely benign	Cardiovascular phenotype	2019-01-02	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000174300	SCV004038062	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486725	SCV004240619	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000541893	SCV004563103	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000541893	SCV001799048	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000174300	SCV001924491	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000174300	SCV001957726	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000541893	SCV001968489	likely benign	not provided		no assertion criteria provided	clinical testing