Submissions for variant NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)

gnomAD frequency: 0.00136  dbSNP: rs75133741

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117068	SCV000226454	benign	not specified	2014-06-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117068	SCV000307944	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000117068	SCV000519700	benign	not specified	2016-04-26	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	RCV000543247	SCV000650952	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
Ambry Genetics	RCV002453429	SCV002738799	benign	Cardiovascular phenotype	2019-03-20	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	RCV000117068	SCV003929229	likely benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486650	SCV004240631	benign	Cardiomyopathy	2023-05-16	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117068	SCV000151210	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573114	SCV001798487	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000117068	SCV001921861	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001573114	SCV001932862	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117068	SCV001952686	benign	not specified		no assertion criteria provided	clinical testing