ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.495C>T (p.Gly165=)

gnomAD frequency: 0.00004  dbSNP: rs368843442
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000930942 SCV001076602 likely benign Sterile multifocal osteomyelitis with periostitis and pustulosis 2023-10-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264098 SCV002543464 uncertain significance Autoinflammatory syndrome 2021-02-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003992423 SCV004811346 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing IL1RN: BP4, BP7

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