Submissions for variant NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)

gnomAD frequency: 0.00728  dbSNP: rs146953558

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000243106	SCV000307949	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000243106	SCV000332317	benign	not specified	2015-06-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000243106	SCV000513070	benign	not specified	2016-08-15	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	RCV000546730	SCV000650998	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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001572642	SCV002050204	benign	not provided	2023-09-21	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000243106	SCV002069860	benign	not specified	2017-06-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001572642	SCV002497559	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	FLNC: BS1, BS2
Ambry Genetics	RCV002347955	SCV002619556	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	RCV000243106	SCV004029319	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486788	SCV004240643	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572642	SCV001797329	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000243106	SCV001927657	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001572642	SCV001955529	likely benign	not provided		no assertion criteria provided	clinical testing