Submissions for variant NM_001457.4(FLNB):c.4233C>G (p.Phe1411Leu)

gnomAD frequency: 0.00066  dbSNP: rs143831841

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001530064	SCV000513064	likely benign	not provided	2021-04-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001150329	SCV001311389	uncertain significance	FLNB-Related Spectrum Disorders	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001530064	SCV002192442	likely benign	not provided	2025-01-07	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001530064	SCV004562306	likely benign	not provided	2023-10-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001530064	SCV004810907	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	FLNB: PP3, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001530064	SCV001744630	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001530064	SCV001975533	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004735506	SCV005362287	likely benign	FLNB-related disorder	2024-08-30	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).