Submissions for variant NM_001458.5(FLNC):c.2390-9T>C

gnomAD frequency: 0.00168  dbSNP: rs368068407

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001083797	SCV000650945	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
GeneDx	RCV000528872	SCV000732087	benign	not provided	2021-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000528872	SCV001143943	benign	not provided	2019-04-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002476182	SCV002803800	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2022-04-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000528872	SCV003917561	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000606796	SCV004038070	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486875	SCV004240629	benign	Cardiomyopathy	2023-04-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003905426	SCV004720675	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).
Clinical Genetics, Academic Medical Center	RCV000606796	SCV001919971	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000606796	SCV001928084	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000528872	SCV001951785	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000528872	SCV001975353	likely benign	not provided		no assertion criteria provided	clinical testing