Submissions for variant NM_001710.5(CFB):c.95G>A (p.Arg32Gln)

gnomAD frequency: 0.11820  dbSNP: rs641153

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000259759	SCV000462001	benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319518	SCV000462002	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319518	SCV000462005	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259759	SCV000462006	benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319518	SCV000484213	likely benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000281261	SCV000484214	likely benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455762	SCV000538521	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: Frequency
Illumina Laboratory Services, Illumina	RCV001154197	SCV001315532	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515636	SCV001723753	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001515636	SCV001745566	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28173125, 16518403, 19255449, 21555552, 16936732, 23112567, 18806293)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002293980	SCV002587291	benign	Focal segmental glomerulosclerosis	2022-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002504800	SCV002796574	benign	Complement component 2 deficiency; Age related macular degeneration 14	2022-04-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515636	SCV005225533	likely benign	not provided		criteria provided, single submitter	not provided
OMIM	RCV000017453	SCV000037725	benign	Factor B fast/slow polymorphism	1994-01-01	no assertion criteria provided	literature only
OMIM	RCV000017454	SCV000037726	benign	BF*FA/S	2017-10-30	no assertion criteria provided	literature only
OMIM	RCV000017458	SCV000037730	protective	Age related macular degeneration 14	2016-08-12	no assertion criteria provided	literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000455762	SCV001931346	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000455762	SCV001958716	benign	not specified		no assertion criteria provided	clinical testing