Submissions for variant NM_001458.5(FLNC):c.597C>T (p.Ala199=)

gnomAD frequency: 0.00124  dbSNP: rs143942649

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000244929	SCV000227232	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003891716	SCV000307968	benign	FLNC-related disorder	2023-03-28	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx	RCV001532118	SCV000522734	benign	not provided	2018-03-13	criteria provided, single submitter	clinical testing
Invitae	RCV000530980	SCV000651097	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	RCV000244929	SCV001475126	benign	not specified	2019-12-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001532118	SCV001747530	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Ambry Genetics	RCV002354448	SCV002657079	benign	Cardiovascular phenotype	2019-03-28	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.
Fulgent Genetics, Fulgent Genetics	RCV002485136	SCV002801292	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2022-01-10	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486726	SCV004240664	benign	Cardiomyopathy	2022-11-17	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000244929	SCV001919147	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001532118	SCV001928322	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001532118	SCV001957378	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001532118	SCV001964164	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000244929	SCV002035866	benign	not specified		no assertion criteria provided	clinical testing