ClinVar Miner

Submissions for variant NM_002800.5(PSMB9):c.494G>A (p.Gly165Asp)

gnomAD frequency: 0.00022  dbSNP: rs369359789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000663433 SCV003807106 likely pathogenic Proteasome-associated autoinflammatory syndrome 3 2022-05-27 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 supporting, PM1 moderated, PM2 moderated, PM3 supporting, BP4 supporting
OMIM RCV000663433 SCV000786722 pathogenic Proteasome-associated autoinflammatory syndrome 3 2024-05-14 no assertion criteria provided literature only

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