Submissions for variant NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)

gnomAD frequency: 0.00048  dbSNP: rs117517372

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117078	SCV000229697	benign	not specified	2014-12-23	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000117078	SCV000307964	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000534583	SCV000651083	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000117078	SCV000721530	benign	not specified	2017-07-31	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.
Ambry Genetics	RCV002345418	SCV002648824	benign	Cardiovascular phenotype	2019-03-20	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000117078	SCV003929223	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486652	SCV004240656	benign	Cardiomyopathy	2023-05-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117078	SCV000151220	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.