ClinVar Miner

Submissions for variant NM_001394783.1(CCR5):c.554_585del (p.Ser185fs)

dbSNP: rs333
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000950102 SCV001096383 benign not provided 2019-11-22 criteria provided, single submitter clinical testing
OMIM RCV000008663 SCV000028872 protective Susceptibility to HIV infection 2008-12-01 no assertion criteria provided literature only
OMIM RCV000008664 SCV000028873 risk factor West Nile virus, susceptibility to 2008-12-01 no assertion criteria provided literature only
OMIM RCV000008665 SCV000028874 protective Resistance to hepatitis C virus 2008-12-01 no assertion criteria provided literature only
OMIM RCV000008666 SCV000028875 risk factor Multiple sclerosis modifier of disease progression 2008-12-01 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003974808 SCV004798985 benign CCR5-related disorder 2019-05-10 no assertion criteria provided 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).

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