Submissions for variant NM_001457.4(FLNB):c.6231C>T (p.Asp2077=)

gnomAD frequency: 0.00184  dbSNP: rs145280904

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000322568	SCV000343151	likely benign	not specified	2016-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000322568	SCV000518595	benign	not specified	2017-12-18	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	RCV000962980	SCV001110102	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000962980	SCV001153987	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	FLNB: BP4, BP7, BS2
Illumina Laboratory Services, Illumina	RCV001144362	SCV001304955	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000962980	SCV001473075	likely benign	not provided	2020-07-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278316	SCV002566697	likely benign	Connective tissue disorder	2022-01-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940062	SCV004747384	likely benign	FLNB-related condition	2019-03-15	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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000962980	SCV001807821	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000962980	SCV001965935	likely benign	not provided		no assertion criteria provided	clinical testing