ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.602G>T (p.Gly201Val)

dbSNP: rs387906680
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022739 SCV000044028 pathogenic Proteasome-associated autoinflammatory syndrome 1 2011-10-01 no assertion criteria provided literature only

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