Submissions for variant NM_001458.5(FLNC):c.2390-8C>G

gnomAD frequency: 0.00057  dbSNP: rs146063718

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725996	SCV000341100	uncertain significance	not provided	2016-05-18	criteria provided, single submitter	clinical testing
Invitae	RCV001087652	SCV000650944	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000407717	SCV000719563	likely benign	not specified	2017-06-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen	RCV000725996	SCV002545557	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000725996	SCV003799337	likely benign	not provided	2022-10-20	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003150153	SCV003838368	benign	Cardiomyopathy	2021-09-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957485	SCV004770385	likely benign	FLNC-related disorder	2020-09-01	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).