ClinVar Miner

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

gnomAD frequency: 0.17324  dbSNP: rs12614
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Total submissions: 15
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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.
Invitae RCV001510498 SCV001717547 benign not provided 2024-01-31 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
PreventionGenetics, part of Exact Sciences RCV003974833 SCV004797356 benign CFB-related condition 2019-07-02 criteria provided, single submitter 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).
OMIM RCV000017455 SCV000037727 benign Factor B fast/slow polymorphism 2013-10-28 no assertion criteria provided literature only

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