Submissions for variant NM_001458.5(FLNC):c.1698C>T (p.Ser566=)

gnomAD frequency: 0.00137  dbSNP: rs112194548

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000174053	SCV000225287	uncertain significance	not provided	2015-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081245	SCV000650917	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000174053	SCV001941292	benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399620	SCV002712432	benign	Cardiovascular phenotype	2019-02-01	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.
Revvity Omics, Revvity	RCV000174053	SCV003833604	benign	not provided	2023-08-25	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150045	SCV003838354	benign	Cardiomyopathy	2021-09-14	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700532	SCV005202368	benign	not specified	2024-07-28	criteria provided, single submitter	clinical testing