ClinVar Miner

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

gnomAD frequency: 0.11820  dbSNP: rs641153
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000259759 SCV000462001 benign Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319518 SCV000462002 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319518 SCV000462005 benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259759 SCV000462006 benign Atypical hemolytic-uremic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000319518 SCV000484213 likely benign Macular degeneration 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000281261 SCV000484214 likely benign Complement component 2 deficiency 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham 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
Illumina Laboratory Services, Illumina RCV001154197 SCV001315532 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001515636 SCV001723753 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001515636 SCV001745566 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28173125, 16518403, 19255449, 21555552, 16936732, 23112567, 18806293)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002293980 SCV002587291 benign Focal segmental glomerulosclerosis 2022-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504800 SCV002796574 benign Complement component 2 deficiency; Age related macular degeneration 14 2022-04-22 criteria provided, single submitter clinical testing
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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000455762 SCV001931346 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000455762 SCV001958716 benign not specified no assertion criteria provided clinical testing

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