Submissions for variant NM_001458.5(FLNC):c.1605C>T (p.Cys535=)

gnomAD frequency: 0.00009  dbSNP: rs199976790

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000546180	SCV000650912	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001577625	SCV001805035	uncertain significance	not provided	2020-02-24	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 471982; Landrum et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Mayo Clinic Laboratories, Mayo Clinic	RCV001577625	SCV002540907	uncertain significance	not provided	2021-09-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404519	SCV002709577	likely benign	Cardiovascular phenotype	2020-10-06	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	RCV002483470	SCV002782118	uncertain significance	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-11-24	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001577625	SCV001932693	uncertain significance	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001577625	SCV001959902	uncertain significance	not provided		no assertion criteria provided	clinical testing