ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.459C>T (p.Asp153=)

gnomAD frequency: 0.01650  dbSNP: rs4252023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000386219 SCV000416032 likely benign Sterile multifocal osteomyelitis with periostitis and pustulosis 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000386219 SCV000768507 benign Sterile multifocal osteomyelitis with periostitis and pustulosis 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263602 SCV002543462 benign Autoinflammatory syndrome 2021-08-21 criteria provided, single submitter clinical testing

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