Submissions for variant NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)

gnomAD frequency: 0.00008  dbSNP: rs377258966

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000592821	SCV000707568	uncertain significance	not provided	2017-04-19	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086237	SCV001026676	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2025-01-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000592821	SCV001778105	likely benign	not provided	2021-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000592821	SCV002586195	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7
Ambry Genetics	RCV002331022	SCV002639655	likely benign	Cardiovascular phenotype	2019-10-11	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	RCV001701097	SCV003934791	benign	not specified	2023-05-28	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701097	SCV001924870	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000592821	SCV001955479	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945423	SCV004762089	likely benign	FLNC-related disorder	2021-01-27	no assertion criteria provided	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).