Submissions for variant NM_001710.6(CFB):c.26T>A (p.Leu9His)

gnomAD frequency: 0.03314  dbSNP: rs4151667

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000288622	SCV000461997	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000264554	SCV000461998	likely benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000385220	SCV000484207	likely benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000288622	SCV000484208	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454952	SCV000538663	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
Mendelics	RCV000385220	SCV001137073	benign	Complement component 2 deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154195	SCV001315530	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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516300	SCV001724565	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001516300	SCV001759214	benign	not provided	2021-06-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 16518403, 16936732)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV000264554	SCV002587583	benign	Atypical hemolytic-uremic syndrome	2022-09-02	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490378	SCV002797382	benign	Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency	2022-04-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001516300	SCV005225532	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000017457	SCV000037729	pathogenic	Age related macular degeneration 14	2006-09-01	no assertion criteria provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000454952	SCV001743683	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001516300	SCV001798399	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000454952	SCV001930031	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001516300	SCV001959258	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549374	SCV004789191	benign	CFB-related disorder	2019-07-26	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).