Submissions for variant NM_001458.5(FLNC):c.2122-17T>C

gnomAD frequency: 0.00135  dbSNP: rs144828462

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252647	SCV000307934	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000252647	SCV000519699	benign	not specified	2016-04-26	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.
Invitae	RCV002058050	SCV002388213	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	RCV000252647	SCV003929243	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000252647	SCV001918940	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252647	SCV001953759	benign	not specified		no assertion criteria provided	clinical testing