ClinVar Miner

Submissions for variant NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) (rs149101394)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000438164 SCV000510737 benign not provided 2017-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397050 SCV000462055 likely benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307542 SCV000462056 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405285 SCV000484239 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307542 SCV000484240 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455606 SCV000538664 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 5.8% in South Asian chr in ExAC.
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490377 SCV000267250 likely benign Complement factor B deficiency 2016-03-18 criteria provided, single submitter reference population

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