Submissions for variant NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)

gnomAD frequency: 0.00283  dbSNP: rs61737781

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000402374	SCV000339729	benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001701987	SCV000528831	benign	not provided	2018-06-11	criteria provided, single submitter	clinical testing
Invitae	RCV000528307	SCV000650968	benign	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002436114	SCV002748861	benign	Cardiovascular phenotype	2019-03-05	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	RCV000402374	SCV004038063	benign	not specified	2023-08-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701987	SCV004161033	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	FLNC: BS1, BS2
Clinical Genetics, Academic Medical Center	RCV000402374	SCV001922105	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701987	SCV001930759	likely benign	not provided		no assertion criteria provided	clinical testing