ClinVar Miner

Submissions for variant NM_018283.4(NUDT15):c.52G>A (p.Val18Ile)

gnomAD frequency: 0.00023  dbSNP: rs186364861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210850 SCV000267144 drug response Thiopurines, poor metabolism of, 2 2016-10-25 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV003937795 SCV004762410 likely benign NUDT15-related disorder 2019-03-11 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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