Submissions for variant NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)

gnomAD frequency: 0.00083  dbSNP: rs368849358

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244124	SCV000307976	likely benign	not specified	2015-12-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001697691	SCV000524848	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Invitae	RCV000542823	SCV000651181	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-02-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578028	SCV000679853	likely benign	Primary dilated cardiomyopathy	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578104	SCV000679854	likely benign	Distal myopathy with posterior leg and anterior hand involvement	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000577968	SCV000679855	likely benign	Hypertrophic cardiomyopathy	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578026	SCV000679856	likely benign	Myofibrillar myopathy 5	2017-08-01	criteria provided, single submitter	clinical testing
Phosphorus, Inc.	RCV000578102	SCV000679857	likely benign	Hypertrophic cardiomyopathy 26	2017-08-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002418082	SCV002677977	likely benign	Cardiovascular phenotype	2019-03-04	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	RCV001697691	SCV004161056	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS1
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486791	SCV004240679	likely benign	Cardiomyopathy	2023-06-06	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000244124	SCV001926240	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001697691	SCV001926736	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244124	SCV001953042	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001697691	SCV001967058	likely benign	not provided		no assertion criteria provided	clinical testing