Submissions for variant NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)

gnomAD frequency: 0.00170  dbSNP: rs138416613

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000357772	SCV000342253	benign	not specified	2017-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000904561	SCV000722466	benign	not provided	2018-08-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000904561	SCV001049084	likely benign	not provided	2025-01-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000357772	SCV001159773	benign	not specified	2019-02-15	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001146266	SCV001307001	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.
CeGaT Center for Human Genetics Tuebingen	RCV000904561	SCV004150395	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	FLNB: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics	RCV000904561	SCV005264017	likely benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000904561	SCV001807526	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000357772	SCV001975054	benign	not specified		no assertion criteria provided	clinical testing