Submissions for variant NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)

gnomAD frequency: 0.00090  dbSNP: rs199880128

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000526014	SCV000651154	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001558061	SCV001779934	likely benign	not provided	2021-04-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002377138	SCV002674921	likely benign	Cardiovascular phenotype	2019-04-14	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.
Fulgent Genetics, Fulgent Genetics	RCV002497178	SCV002808860	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2022-03-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001558061	SCV003917568	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences	RCV003945287	SCV004765918	likely benign	FLNC-related disorder	2019-11-27	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).