Submissions for variant NM_001458.5(FLNC):c.4404T>C (p.Asp1468=)

gnomAD frequency: 0.99086  dbSNP: rs2249128

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221141	SCV000269123	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Asp1468Asp in exon 25 of FLNC: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 2.7% (106/3868) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs2249128).
Eurofins Ntd Llc (ga)	RCV000221141	SCV000338270	benign	not specified	2016-06-03	criteria provided, single submitter	clinical testing
Invitae	RCV001520069	SCV001729080	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000221141	SCV003929246	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000221141	SCV001743812	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000221141	SCV001921049	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000221141	SCV001929019	benign	not specified		no assertion criteria provided	clinical testing