Submissions for variant NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)

gnomAD frequency: 0.00160  dbSNP: rs184018403

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725969	SCV000340920	uncertain significance	not provided	2016-04-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000269975	SCV000527491	benign	not specified	2016-10-19	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	RCV000269975	SCV000613334	benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
Invitae	RCV001083752	SCV000651085	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725969	SCV002586196	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Ambry Genetics	RCV002348011	SCV002652319	likely benign	Cardiovascular phenotype	2019-06-14	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150152	SCV003837904	benign	Cardiomyopathy	2022-04-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725969	SCV004563044	likely benign	not provided	2023-09-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940031	SCV004756664	likely benign	FLNC-related disorder	2020-04-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000269975	SCV001917266	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000725969	SCV001932050	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000725969	SCV001953706	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725969	SCV001974854	likely benign	not provided		no assertion criteria provided	clinical testing