ClinVar Miner

Submissions for variant NM_000576.3(IL1B):c.315C>T (p.Phe105=)

gnomAD frequency: 0.19486  dbSNP: rs1143634
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV001078161 SCV001244194 association Antisynthetase syndrome 2020-02-10 no assertion criteria provided case-control
Laboratorio de Investigación del Departamento de Salud, Universidad Iberoamericana A.C. RCV001824064 SCV002073727 affects Endometriosis 2021-10-20 no assertion criteria provided case-control Mexican mestizo women with severe stage of endometriosis have higher frequencies of TNF*2-, IL1B*2- and IL1RN*2-alleles, which may explain a possible correlation with disease severity rather than predisposition or risk.
Department of Surgery, Campus Charité Mitte | Campus Virchow-klinikum, Charite-Universitaetsmedizin Berlin RCV003311942 SCV004011737 other Cholangiocarcinoma 2022-12-10 no assertion criteria provided research C/C genotype associated with significantly shorter OS after surgical resection of intrahepatic CCA
PreventionGenetics, part of Exact Sciences RCV003973045 SCV004788004 benign IL1B-related disorder 2019-11-19 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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