Submissions for variant NM_001458.5(FLNC):c.294G>A (p.Glu98=)

gnomAD frequency: 0.00029  dbSNP: rs201839252

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084027	SCV000650966	likely 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
CeGaT Center for Human Genetics Tuebingen	RCV000659088	SCV000780898	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
GeneDx	RCV000659088	SCV001822241	likely benign	not provided	2021-01-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002438466	SCV002752516	likely benign	Cardiovascular phenotype	2019-10-20	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.
Clinical Genetics, Academic Medical Center	RCV001700214	SCV001922266	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000659088	SCV001956641	likely benign	not provided		no assertion criteria provided	clinical testing