ClinVar Miner

Submissions for variant NM_001710.5(CFB):c.95G>A (p.Arg32Gln) (rs641153)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000259759 SCV000462001 benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319518 SCV000462002 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319518 SCV000462005 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000259759 SCV000462006 benign Atypical hemolytic uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319518 SCV000484213 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281261 SCV000484214 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare 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
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

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