Submissions for variant NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)

gnomAD frequency: 0.00086  dbSNP: rs201905890

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173740	SCV000224888	uncertain significance	not provided	2017-03-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085177	SCV000650911	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000173740	SCV001960516	benign	not provided	2019-10-16	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27296017, 28008999)
Genetic Services Laboratory, University of Chicago	RCV001818414	SCV002069857	likely benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000173740	SCV002545555	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Ambry Genetics	RCV002399619	SCV002709152	likely benign	Cardiovascular phenotype	2019-01-25	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	RCV003486724	SCV004240615	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173740	SCV001929678	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000173740	SCV001963685	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917606	SCV004731104	likely benign	FLNC-related disorder	2021-02-11	no assertion criteria provided	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).