Submissions for variant NM_001458.5(FLNC):c.2733G>A (p.Lys911=)

gnomAD frequency: 0.00024  dbSNP: rs374135903

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000733039	SCV000861053	uncertain significance	not provided	2018-05-15	criteria provided, single submitter	clinical testing
Invitae	RCV001089435	SCV001017189	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002440576	SCV002747578	likely benign	Cardiovascular phenotype	2020-03-10	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	RCV001700300	SCV001919104	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000733039	SCV001959882	likely benign	not provided		no assertion criteria provided	clinical testing