ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.205+242C>T

gnomAD frequency: 0.17798  dbSNP: rs2071459
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646725 SCV000768506 benign Sterile multifocal osteomyelitis with periostitis and pustulosis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001724114 SCV001950975 benign not provided 2018-11-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23462747, 27884173)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263900 SCV002543451 benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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