ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.906G>A (p.Lys302=)

gnomAD frequency: 0.00010  dbSNP: rs561414480
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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 RCV001411733 SCV001613799 likely benign Hyper-IgM syndrome type 5 2022-12-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938702 SCV004747715 likely benign UNG-related disorder 2019-07-01 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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