Submissions for variant NM_001458.5(FLNC):c.4581-5T>A

gnomAD frequency: 0.00111  dbSNP: rs368660628

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001080589	SCV000651035	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-28	criteria provided, single submitter	clinical testing
GeneDx	RCV000599018	SCV000710005	benign	not provided	2020-02-05	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar but additional evidence is not available (ClinVar Variant ID# 472071; Landrum et al., 2016)
CeGaT Center for Human Genetics Tuebingen	RCV000599018	SCV002497560	benign	not provided	2022-03-01	criteria provided, single submitter	clinical testing	FLNC: BS1, BS2
Ambry Genetics	RCV002341415	SCV002637027	likely benign	Cardiovascular phenotype	2020-09-05	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	RCV002506361	SCV002800319	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-08-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000599018	SCV004563715	benign	not provided	2023-10-10	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003925675	SCV004743163	likely benign	FLNC-related disorder	2019-05-20	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).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000599018	SCV001929432	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000599018	SCV001965614	likely benign	not provided		no assertion criteria provided	clinical testing