ClinVar Miner

Submissions for variant NM_003263.4(TLR1):c.1805G>T (p.Ser602Ile)

gnomAD frequency: 0.50543  dbSNP: rs5743618
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003974810 SCV004793402 benign TLR1-related disorder 2019-10-17 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 RCV000008865 SCV000029075 protective Leprosy, protection against 2012-12-01 no assertion criteria provided literature only
Centro Dermatológico Federico Lleras Acosta, Hospital Universitario Centro Dermatológico Federico Lleras Acosta RCV002291545 SCV002583878 uncertain risk allele Leprosy, susceptibility to, 1 2022-06-10 no assertion criteria provided case-control

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