ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.1524+16C>A

gnomAD frequency: 0.00048  dbSNP: rs199469537
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244377 SCV000302299 likely benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000668834 SCV000793500 likely benign Dihydropyrimidine dehydrogenase deficiency 2017-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000668834 SCV004049543 likely benign Dihydropyrimidine dehydrogenase deficiency 2023-04-11 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000086479 SCV005877113 likely benign not provided 2023-12-29 criteria provided, single submitter clinical testing
Diasio Lab, Mayo Clinic RCV000086479 SCV000118645 not provided not provided no assertion provided not provided

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