Submissions for variant NM_001458.5(FLNC):c.6004+19G>A

gnomAD frequency: 0.01231  dbSNP: rs12530507

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242267	SCV000307970	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000242267	SCV000522549	benign	not specified	2016-03-02	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001573135	SCV002048687	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV002058059	SCV002326391	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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000242267	SCV004029312	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573135	SCV001798534	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000242267	SCV001919866	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000242267	SCV001958071	benign	not specified		no assertion criteria provided	clinical testing