Submissions for variant NM_005141.5(FGB):c.534G>C (p.Lys178Asn)

gnomAD frequency: 0.00038  dbSNP: rs201909029

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
NIHR Bioresource Rare Diseases, University of Cambridge	RCV000852154	SCV000899794	uncertain significance	Deep venous thrombosis	2019-02-01	criteria provided, single submitter	research
CeGaT Center for Human Genetics Tuebingen	RCV000998310	SCV001154301	uncertain significance	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001148167	SCV001309037	likely benign	Congenital afibrinogenemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000998310	SCV002437812	benign	not provided	2023-11-13	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965575	SCV004785226	likely benign	FGB-related disorder	2023-10-16	no assertion criteria provided	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).