ClinVar Miner

Submissions for variant NM_001385.3(DPYS):c.1002G>A (p.Gln334=)

gnomAD frequency: 0.00086  dbSNP: rs148318692
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000086523 SCV002479457 benign not provided 2022-11-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952536 SCV004771480 likely benign DPYS-related condition 2019-04-04 criteria provided, single submitter 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).
Diasio Lab, Mayo Clinic RCV000086523 SCV000118727 not provided not provided no assertion provided not provided

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