Submissions for variant NM_001458.5(FLNC):c.6005-9T>C

gnomAD frequency: 0.00133  dbSNP: rs118124743

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177903	SCV000229862	benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000177903	SCV000307971	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000177903	SCV000519702	benign	not specified	2016-04-26	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	RCV000556508	SCV000651102	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000177903	SCV003929231	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486731	SCV004240665	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000177903	SCV001925742	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701779	SCV001929075	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000177903	SCV001956974	benign	not specified		no assertion criteria provided	clinical testing