Submissions for variant NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)

gnomAD frequency: 0.00138  dbSNP: rs34932223

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000173741	SCV000224889	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Invitae	RCV000544670	SCV000650909	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
GeneDx	RCV000173741	SCV000728450	benign	not specified	2017-09-07	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573925	SCV002048104	likely benign	not provided	2021-05-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000173741	SCV002069856	benign	not specified	2017-08-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573925	SCV002545554	benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS1, BS2
Ambry Genetics	RCV002390419	SCV002703360	benign	Cardiovascular phenotype	2019-03-12	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	RCV000173741	SCV004241443	likely benign	not specified	2023-12-03	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573925	SCV001800485	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000173741	SCV001925423	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000173741	SCV001932206	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000173741	SCV001952448	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001573925	SCV001968659	likely benign	not provided		no assertion criteria provided	clinical testing