Submissions for variant NM_001458.5(FLNC):c.2389+12C>T

gnomAD frequency: 0.00151  dbSNP: rs370526829

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252050	SCV000307940	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000840693	SCV000982625	likely benign	not provided	2018-03-21	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	RCV002058052	SCV002410274	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
CeGaT Center for Human Genetics Tuebingen	RCV000840693	SCV003917560	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	FLNC: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000252050	SCV004029311	benign	not specified	2023-07-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000252050	SCV001916985	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000840693	SCV001932776	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000840693	SCV001957657	likely benign	not provided		no assertion criteria provided	clinical testing