ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala)

gnomAD frequency: 0.00277  dbSNP: rs112317511
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000524699 SCV000648400 benign Inflammatory bowel disease 28 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000524699 SCV001262555 benign Inflammatory bowel disease 28 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen RCV001701041 SCV004136147 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing IL10RA: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001701041 SCV005232334 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701041 SCV001926492 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001701041 SCV001972916 likely benign not provided no assertion criteria provided clinical testing

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