Submissions for variant NM_001458.5(FLNC):c.561C>T (p.Asp187=)

gnomAD frequency: 0.00178  dbSNP: rs149474376

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712234	SCV000522831	benign	not provided	2018-07-06	criteria provided, single submitter	clinical testing
Invitae	RCV000551611	SCV000651084	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001712234	SCV002497552	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	FLNC: BP4, BP7, BS2
Ambry Genetics	RCV002348187	SCV002649234	likely benign	Cardiovascular phenotype	2019-03-21	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	RCV002502523	SCV002806566	likely benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26	2021-08-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001712234	SCV003800138	benign	not provided	2022-09-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000437832	SCV004122325	benign	not specified	2023-10-23	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486831	SCV004240657	benign	Cardiomyopathy	2023-01-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000437832	SCV001918499	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000437832	SCV001931396	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001712234	SCV001957792	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000437832	SCV001966059	benign	not specified		no assertion criteria provided	clinical testing