ClinVar Miner

Submissions for variant NM_001710.6(CFB):c.450A>G (p.Arg150=)

gnomAD frequency: 0.85323  dbSNP: rs1048709
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393257 SCV000462015 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000298932 SCV000462016 benign Atypical hemolytic-uremic syndrome with B factor anomaly 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000393257 SCV000484219 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000302130 SCV000484220 benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001515637 SCV001723754 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578999 SCV001806382 benign Complement factor b deficiency 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000298932 SCV001806383 benign Atypical hemolytic-uremic syndrome with B factor anomaly 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001515637 SCV001902200 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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