ClinVar Miner

Submissions for variant NM_000110.4(DPYD):c.1905C>T (p.Asn635=)

gnomAD frequency: 0.00021  dbSNP: rs3918289
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000086469 SCV001061664 benign not provided 2018-08-06 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001098581 SCV001254959 uncertain significance Dihydropyrimidine dehydrogenase 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002514534 SCV003626153 uncertain significance Inborn genetic diseases 2021-02-19 criteria provided, single submitter clinical testing Occurs in the last base pair of the exon Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV000086469 SCV004124092 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing DPYD: BP4, BP7
Diasio Lab, Mayo Clinic RCV000086469 SCV000118635 not provided not provided no assertion provided not provided

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