Submissions for variant NM_001710.5(CFB):c.94C>T (p.Arg32Trp)

gnomAD frequency: 0.17324  dbSNP: rs12614

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000324324	SCV000461999	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293644	SCV000462000	benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324324	SCV000462003	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293644	SCV000462004	benign	Atypical hemolytic-uremic syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324934	SCV000484209	benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324324	SCV000484210	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324934	SCV000484211	benign	Complement component 2 deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324324	SCV000484212	benign	Macular degeneration	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001154196	SCV001315531	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510498	SCV001717547	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001510498	SCV001950662	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21541267, 19255449, 19009711, 28173125, 33334325)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002293981	SCV002587249	benign	Focal segmental glomerulosclerosis	2022-09-27	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002496388	SCV002808954	likely benign	Atypical hemolytic-uremic syndrome with B factor anomaly; Age related macular degeneration 14; Complement factor b deficiency	2022-05-09	criteria provided, single submitter	clinical testing
OMIM	RCV000017455	SCV000037727	benign	Factor B fast/slow polymorphism	2013-10-28	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004549373	SCV004797356	benign	CFB-related disorder	2019-07-02	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).