Submissions for variant NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)

gnomAD frequency: 0.00207  dbSNP: rs199652368

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001704387	SCV000529143	benign	not provided	2021-02-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28356264)
Invitae	RCV000560197	SCV000650953	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821193	SCV002069859	benign	not specified	2017-11-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002429416	SCV002742369	likely benign	Cardiovascular phenotype	2019-01-11	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	RCV003486837	SCV004240632	benign	Cardiomyopathy	2023-01-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001704387	SCV004563274	likely benign	not provided	2023-01-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922801	SCV004741604	benign	FLNC-related disorder	2021-01-11	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).