Submissions for variant NM_001458.5(FLNC):c.5445C>T (p.Thr1815=)

gnomAD frequency: 0.00010  dbSNP: rs758995789

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000649218	SCV000771043	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001577293	SCV001804646	likely benign	not provided	2020-04-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002343341	SCV002649080	likely benign	Cardiovascular phenotype	2020-01-18	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	RCV003150323	SCV003838435	likely benign	Cardiomyopathy	2021-09-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001796166	SCV002034559	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001577293	SCV002036766	likely benign	not provided		no assertion criteria provided	clinical testing