Submissions for variant NM_001457.4(FLNB):c.1278C>T (p.His426=)

gnomAD frequency: 0.00003  dbSNP: rs572259451

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000273153	SCV000445702	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000901810	SCV001046198	benign	not provided	2023-11-27	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278554	SCV002566644	likely benign	Connective tissue disorder	2021-09-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000901810	SCV004150373	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	FLNB: BP4, BP7, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000901810	SCV005263974	likely benign	not provided		criteria provided, single submitter	not provided