ClinVar Miner

Submissions for variant NM_001385.3(DPYS):c.19C>G (p.Leu7Val)

gnomAD frequency: 0.01314  dbSNP: rs57732538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000264226 SCV000471301 likely benign Dihydropyrimidinase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000086532 SCV001093294 likely benign not provided 2024-01-15 criteria provided, single submitter clinical testing
Diasio Lab, Mayo Clinic RCV000086532 SCV000118736 not provided not provided no assertion provided not provided

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