Submissions for variant NM_001458.5(FLNC):c.1813+11G>T

gnomAD frequency: 0.00126  dbSNP: rs138716837

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726499	SCV000345083	uncertain significance	not provided	2016-08-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000328069	SCV000528873	likely benign	not specified	2016-07-07	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	RCV002059293	SCV002388080	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726499	SCV004010719	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	FLNC: BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000328069	SCV004223183	benign	not specified	2023-11-27	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000328069	SCV001921131	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726499	SCV001927760	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000726499	SCV001958261	likely benign	not provided		no assertion criteria provided	clinical testing