ClinVar Miner

Submissions for variant NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg)

gnomAD frequency: 0.00168  dbSNP: rs41286058
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001820651 SCV002068125 benign not specified 2021-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976226 SCV004798548 likely benign DIS3-related disorder 2020-09-17 no assertion criteria provided 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).

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