Submissions for variant NM_001457.4(FLNB):c.6683T>C (p.Ile2228Thr)

gnomAD frequency: 0.00148  dbSNP: rs149629209

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178429	SCV000230507	likely benign	not specified	2015-02-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905074	SCV001049636	likely benign	not provided	2024-11-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277401	SCV002566700	uncertain significance	Connective tissue disorder	2020-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517734	SCV003718919	likely benign	Inborn genetic diseases	2022-07-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx	RCV000905074	SCV004022843	uncertain significance	not provided	2023-07-29	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences	RCV004539666	SCV004761635	likely benign	FLNB-related disorder	2023-07-24	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).