Submissions for variant NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)

gnomAD frequency: 0.00076  dbSNP: rs201333104

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000527428	SCV000527080	benign	not provided	2020-01-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26555887, 28356264, 27296017)
Invitae	RCV001083558	SCV000651111	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
Phosphorus, Inc.	RCV000578034	SCV000679850	likely benign	Distal myopathy with posterior leg and anterior hand involvement	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578087	SCV000679851	likely benign	Myofibrillar myopathy 5	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000577974	SCV000679852	likely benign	Hypertrophic cardiomyopathy 26	2017-08-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000527428	SCV001143946	benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002356571	SCV002656830	likely benign	Cardiovascular phenotype	2019-01-23	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000527428	SCV003799468	likely benign	not provided	2022-09-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000527428	SCV004032769	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	FLNC: BS1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486835	SCV004240668	benign	Cardiomyopathy	2022-11-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003902565	SCV004721970	likely benign	FLNC-related disorder	2020-08-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center	RCV000527428	SCV001923808	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000527428	SCV001932570	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000527428	SCV001955675	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000527428	SCV001963866	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000527428	SCV002036054	likely benign	not provided		no assertion criteria provided	clinical testing