ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.696C>T (p.Thr232=)

gnomAD frequency: 0.00274  dbSNP: rs4252311
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000625086 SCV000367432 likely benign Inflammatory bowel disease 28 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625086 SCV000743740 likely benign Inflammatory bowel disease 28 2015-03-16 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625086 SCV000745142 likely benign Inflammatory bowel disease 28 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000625086 SCV000768995 benign Inflammatory bowel disease 28 2024-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734742 SCV000862908 likely benign not specified 2018-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001091035 SCV001246868 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing IL10RA: BP4, BP7, BS2

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