Submissions for variant NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)

gnomAD frequency: 0.00071  dbSNP: rs77934864

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000274707	SCV000338544	uncertain significance	not provided	2016-01-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000274707	SCV000885486	likely benign	not provided	2023-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV000274707	SCV001028487	likely benign	not provided	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001148704	SCV001309612	uncertain significance	FLNB-Related Spectrum Disorders	2018-01-12	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.
GeneDx	RCV000274707	SCV001779258	likely benign	not provided	2021-06-24	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003909976	SCV004720404	likely benign	FLNB-related condition	2019-07-10	criteria provided, single submitter	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).