Submissions for variant NM_001457.4(FLNB):c.4515-24GT[4]

dbSNP: rs151085835

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000596384	SCV000703684	likely benign	not specified	2016-12-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000838627	SCV000980501	likely benign	not provided	2018-03-26	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000838627	SCV001473779	likely benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000838627	SCV002429456	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543339	SCV004766450	likely benign	FLNB-related disorder	2022-01-31	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).