ClinVar Miner

Submissions for variant NM_173842.3(IL1RN):c.465C>T (p.Pro155=)

gnomAD frequency: 0.00435  dbSNP: rs2232355
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646724 SCV000768505 benign Sterile multifocal osteomyelitis with periostitis and pustulosis 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000646724 SCV001292928 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263899 SCV002543463 likely benign Autoinflammatory syndrome 2022-02-08 criteria provided, single submitter clinical testing

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