Submissions for variant NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)

gnomAD frequency: 0.00014  dbSNP: rs754112206

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001432286	SCV001635051	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-08-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001703096	SCV002074070	likely benign	not provided	2021-08-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26582918)
Ambry Genetics	RCV002368342	SCV002664694	likely benign	Cardiovascular phenotype	2019-09-06	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.
CeGaT Center for Human Genetics Tuebingen	RCV001703096	SCV004161047	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703096	SCV001931461	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001703096	SCV001958505	likely benign	not provided		no assertion criteria provided	clinical testing