ClinVar Miner

Submissions for variant NC_000002.11:g.(?_113817016)_(113890448_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001963059 SCV002243794 pathogenic Sterile multifocal osteomyelitis with periostitis and pustulosis 2024-01-22 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IL1RN gene has been identified. Loss-of-function variants in IL1RN are known to be pathogenic (PMID: 19494218, 21792839, 22940634, 26100510). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with IL1RN-related conditions. For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV003120785 SCV003792789 pathogenic Generalized pustular psoriasis 2022-10-24 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the IL36RN gene has been identified. Loss-of-function variants in IL36RN are known to be pathogenic (PMID: 23698098). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with IL36RN-related conditions. For these reasons, this variant has been classified as Pathogenic.

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