ClinVar Miner

Submissions for variant NM_000579.4(CCR5):c.-301+246A>G

gnomAD frequency: 0.48765  dbSNP: rs1799987
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003944807 SCV004764592 benign CCR5-related disorder 2021-02-18 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 RCV000008671 SCV000028880 pathogenic Acquired immunodeficiency syndrome, delayed progression to 2003-03-01 no assertion criteria provided literature only
OMIM RCV000008674 SCV000028883 benign CCR5 PROMOTER POLYMORPHISM 2003-07-08 no assertion criteria provided literature only
OMIM RCV000008675 SCV000028884 protective Susceptibility to HIV infection 2003-07-08 no assertion criteria provided literature only

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