Submissions for variant NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)

gnomAD frequency: 0.00391  dbSNP: rs149101394

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000490377	SCV000267250	likely benign	Complement factor b deficiency	2016-03-18	criteria provided, single submitter	reference population
Illumina Laboratory Services, Illumina	RCV000397050	SCV000462055	likely benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307542	SCV000462056	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000405285	SCV000484239	likely benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307542	SCV000484240	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000438164	SCV000510737	benign	not provided	2017-02-09	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455606	SCV000538664	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF 5.8% in South Asian chr in ExAC.
Mendelics	RCV000405285	SCV001137074	benign	Complement component 2 deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001155246	SCV001316665	likely benign	Atypical hemolytic-uremic syndrome with B factor anomaly	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.
Invitae	RCV000438164	SCV001721196	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000438164	SCV001872577	benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20108004, 26911616, 33213850, 28939980, 28710236, 24652797, 30046676, 33238263, 27884173, 20513133)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000397050	SCV002587612	benign	Atypical hemolytic-uremic syndrome	2022-06-24	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494551	SCV002799349	benign	Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency	2022-04-07	criteria provided, single submitter	clinical testing