Submissions for variant NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)

gnomAD frequency: 0.00536  dbSNP: rs181067717

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177767	SCV000229696	benign	not specified	2014-10-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891734	SCV000307963	likely benign	FLNC-related disorder	2019-05-09	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).
GeneDx	RCV000177767	SCV000523545	benign	not specified	2016-02-29	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	RCV001082895	SCV000651078	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
Athena Diagnostics	RCV000545493	SCV001143944	benign	not provided	2018-11-07	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177767	SCV002069861	benign	not specified	2020-05-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000545493	SCV002497562	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FLNC: BS2
Ambry Genetics	RCV002345619	SCV002654119	likely benign	Cardiovascular phenotype	2023-05-17	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000545493	SCV003799929	benign	not provided	2023-11-17	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177767	SCV004029315	likely benign	not specified	2023-07-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486730	SCV004240655	benign	Cardiomyopathy	2023-01-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177767	SCV001925241	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000545493	SCV001926788	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000177767	SCV001959605	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000545493	SCV001964073	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000545493	SCV002035679	likely benign	not provided		no assertion criteria provided	clinical testing