Submissions for variant NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)

gnomAD frequency: 0.00002  dbSNP: rs576402053

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000350055	SCV000344488	likely benign	not specified	2016-08-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001697710	SCV000531543	benign	not provided	2020-07-27	criteria provided, single submitter	clinical testing
Invitae	RCV000877929	SCV001020748	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-08	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000350055	SCV001984207	likely benign	not specified	2020-09-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418134	SCV002721662	likely benign	Cardiovascular phenotype	2019-07-10	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.
CeGaT Center for Human Genetics Tuebingen	RCV001697710	SCV002821851	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000350055	SCV003929241	likely benign	not specified	2023-04-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003977811	SCV004794911	likely benign	FLNC-related disorder	2020-04-16	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001697710	SCV001930212	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697710	SCV001975802	likely benign	not provided		no assertion criteria provided	clinical testing