Submissions for variant NM_001457.4(FLNB):c.2493C>T (p.Pro831=)

gnomAD frequency: 0.00116  dbSNP: rs145952210

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000370279	SCV000336508	likely benign	not specified	2015-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000897347	SCV000722464	likely benign	not provided	2021-09-22	criteria provided, single submitter	clinical testing
Invitae	RCV000897347	SCV001041488	benign	not provided	2024-01-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001144008	SCV001304582	likely benign	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 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	RCV000897347	SCV002047976	likely benign	not provided	2021-05-02	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002278285	SCV002566655	likely benign	Connective tissue disorder	2021-11-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000897347	SCV004150378	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	FLNB: BP4, BP7, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000897347	SCV001806919	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000897347	SCV001974669	likely benign	not provided		no assertion criteria provided	clinical testing