Submissions for variant NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)

gnomAD frequency: 0.00045  dbSNP: rs200237564

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724251	SCV000228030	uncertain significance	not provided	2017-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV001079783	SCV000651011	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	RCV000724251	SCV000681379	benign	not provided	2020-04-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372088	SCV002624479	likely benign	Cardiovascular phenotype	2018-12-31	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000176382	SCV004038059	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724251	SCV004161036	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003907584	SCV004718860	likely benign	FLNC-related disorder	2020-08-03	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	RCV000176382	SCV001925437	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724251	SCV001932659	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000176382	SCV001958075	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724251	SCV001973786	likely benign	not provided		no assertion criteria provided	clinical testing