Submissions for variant NM_001458.5(FLNC):c.1797C>T (p.Thr599=)

gnomAD frequency: 0.00001  dbSNP: rs773793586

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000433756	SCV000525006	likely benign	not specified	2016-03-09	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	RCV000527948	SCV000650919	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-10-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411341	SCV002717253	likely benign	Cardiovascular phenotype	2019-07-08	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	RCV003486833	SCV004240616	likely benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing