Submissions for variant NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)

gnomAD frequency: 0.06868  dbSNP: rs35281128

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000117070	SCV000151212	benign	not specified	2013-08-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117070	SCV000307947	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117070	SCV000519422	benign	not specified	2016-03-25	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	RCV000552809	SCV000650993	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000711681	SCV000842068	benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453431	SCV002616343	benign	Cardiovascular phenotype	2018-12-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000117070	SCV003929228	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117070	SCV002034654	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000711681	SCV002035924	likely benign	not provided		no assertion criteria provided	clinical testing