ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.508C>T (p.Gln170Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003315140 SCV004014761 likely pathogenic Dihydropyrimidine dehydrogenase deficiency 2023-02-14 criteria provided, single submitter clinical testing

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