ClinVar Miner

Submissions for variant NM_000628.5(IL10RB):c.435G>A (p.Met145Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224691 SCV003920058 uncertain significance Hepatitis B virus, susceptibility to; Inflammatory bowel disease 25 2022-10-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in the Genome Aggregation Database (Highest reported MAF 0.008% (6/68036) (https://gnomad.broadinstitute.org/variant/21-33279855-G-A?dataset=gnomad_r3). Evolutionary conservation for this variant is limited or unavailable; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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