ClinVar Miner

Submissions for variant NM_148919.4(PSMB8):c.537+8C>T

gnomAD frequency: 0.00003  dbSNP: rs767292865
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003761244 SCV001612088 likely benign Proteosome-associated autoinflammatory syndrome 2023-11-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264301 SCV002542826 uncertain significance Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing

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