Submissions for variant NM_001458.5(FLNC):c.7545C>T (p.Leu2515=)

gnomAD frequency: 0.00003  dbSNP: rs369791058

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000535162	SCV000651169	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000608792	SCV000714384	benign	not specified	2018-01-24	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.
Ambry Genetics	RCV002395441	SCV002675177	benign	Cardiovascular phenotype	2019-06-19	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486882	SCV004240677	benign	Cardiomyopathy	2023-06-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000608792	SCV001925807	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702514	SCV001927992	likely benign	not provided		no assertion criteria provided	clinical testing