ClinVar Miner

Submissions for variant NC_000021.8:g.(?_34638771)_(34668662_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004579321 SCV005068071 pathogenic Inflammatory bowel disease 25 2023-06-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IL10RB-related conditions. For these reasons, this variant has been classified as Pathogenic. A gross deletion of the genomic region encompassing the full coding sequence of the IL10RB gene has been identified. Loss-of-function variants in IL10RB are known to be pathogenic (PMID: 22549091). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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