ClinVar Miner

Submissions for variant NM_001558.4(IL10RA):c.1518G>A (p.Leu506=)

gnomAD frequency: 0.00005  dbSNP: rs187556084
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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 RCV001463531 SCV001667477 likely benign Inflammatory bowel disease 28 2023-11-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965373 SCV004781750 likely benign IL10RA-related disorder 2020-02-19 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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