Submissions for variant NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)

gnomAD frequency: 0.00173  dbSNP: rs201672146

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178492	SCV000230581	benign	not specified	2015-03-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000178492	SCV000513072	benign	not specified	2016-11-10	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	RCV000541798	SCV000651152	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000178492	SCV001475849	benign	not specified	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002292480	SCV002586199	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Ambry Genetics	RCV002362917	SCV002663083	likely benign	Cardiovascular phenotype	2018-12-28	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000178492	SCV004029321	likely benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486734	SCV004240674	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907618	SCV004720525	likely benign	FLNC-related disorder	2019-06-18	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).