ClinVar Miner

Submissions for variant NM_002800.5(PSMB9):c.179G>A (p.Arg60His)

dbSNP: rs17587
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001789603 SCV002032012 benign Proteasome-associated autoinflammatory syndrome 3 2021-10-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003401717 SCV004122997 benign not specified 2023-11-14 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 44% of patients studied by a panel of primary immunodeficiencies. Number of patients: 42. Only high quality variants are reported.
PreventionGenetics, part of Exact Sciences RCV003976183 SCV004793274 benign PSMB9-related disorder 2019-10-21 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).

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